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Mon Apr 20 08:50:10 2026 -0700
lrSv: add cpc1Sv and aprSv pangenome SV subtracks (hg38, hs1)
cpc1Sv: 97,205 SVs from the CPC + HPRC Phase 1 pangenome (Gao et al 2023,
Nature; PMID 37316654) built on T2T-CHM13v2, with 53 Chinese and 47 HPRC
samples. Each graph snarl site is shown as one item with alt alleles
classified by length delta (INS/DEL/CPX, 50 bp threshold) and collapsed.
aprSv: 103,077 SVs from the Arabic Pangenome Reference (Nassir et al.
2025, Nat Commun; PMID 40707445) built on T2T-CHM13v2 from 53 UAE-resident
Arab individuals. Same multi-allele classification as cpc1Sv, with alt
alleles iterated within each multi-allelic row.
Both tracks load natively on hs1 and are lifted to hg38 with
hs1ToHg38.over.chain.gz.
refs #36258
diff --git src/hg/makeDb/trackDb/human/lrSv.ra src/hg/makeDb/trackDb/human/lrSv.ra
index d913600e518..f51bf6bfca1 100644
--- src/hg/makeDb/trackDb/human/lrSv.ra
+++ src/hg/makeDb/trackDb/human/lrSv.ra
@@ -1,126 +1,203 @@
track lrSv
superTrack on
shortLabel Long-read SVs
longLabel Structural Variants from Long-read Sequencing
group varRep
visibility hide
- track han945Sv
+ track colorsDbSv
parent lrSv
- bigDataUrl /gbdb/$D/lrSv/han945.bb
- shortLabel Han 945 SVs
- longLabel Structural Variants from 945 Han Chinese (Long-read Sequencing)
+ bigDataUrl /gbdb/$D/lrSv/colorsDb/sv.$D.bb
+ shortLabel CoLoRSdb 1,427 SVs
+ longLabel Structural Variants from CoLoRSdb (Consortium of Long-Read Sequencing, 1,427 Samples)
type bigBed 9 +
itemRgb on
visibility dense
- mouseOver $name ($svType) len=$svLen AF=$alleleFreq samples=$sampleCount
- filterValues.svType DEL,INS,DUP,INV,TRA
+ mouseOver $name ($svType) len=$svLen AF=$af AC=$AC (Hom:$AC_Hom Het:$AC_Het Hemi:$AC_Hemi) samples=$NS
+ searchIndex name
+ filterValues.svType DEL,INS,INV
filterType.svType multipleListOr
filterLabel.svType SV Type
- filter.svLen 0:99743
+ filter.svLen 20:101381
filterByRange.svLen on
filterLabel.svLen SV Length
- filter.sampleCount 1:945
- filterByRange.sampleCount on
- filterLabel.sampleCount Number of Supporting Samples
- filter.alleleFreq 0:1
- filterByRange.alleleFreq on
- filterLimits.alleleFreq 0:1
- filterLabel.alleleFreq Allele Frequency
+ filter.AC 0:2854
+ filterByRange.AC on
+ filterLabel.AC Alt Allele Count (AC)
skipEmptyFields on
- urls chr2="hgTracks?position=$$"
+ priority 1
track lrSv1kgOnt
parent lrSv
bigDataUrl /gbdb/$D/lrSv/1kgOnt.bb
- shortLabel 1KG ONT SVs
- longLabel Structural Variants from 1,019 Diverse Humans (1000 Genomes ONT)
+ shortLabel 1KG ONT 1019 SVs
+ longLabel Structural Variants from 1,019 Diverse Humans (Vienna ONT, Schloissnig et al. 2025)
type bigBed 9 +
itemRgb on
visibility dense
mouseOver $name ($svClass) len=$svLen type=$insType family=$family AC=$alleleCount AF=$alleleFreq
filterValues.svClass DEL,INS,COMPLEX
filterType.svClass multipleListOr
filterLabel.svClass SV Class
filterValues.insType COMPLEX_DUP,DUP,DUP_INTERSPERSED,INV_DUP,NUMT,PSD,VNTR,chimera,orphan,partnered,solo
filterType.insType multipleListOr
filterLabel.insType Insertion/Deletion Type
filterValues.family Alu,HERVK,L1,LTR5_Hs,SVA
filterType.family multipleListOr
filterLabel.family Transposon Family
filterByRange.svLen on
filterLabel.svLen SV Length
filterByRange.alleleFreq on
filterLimits.alleleFreq 0:1
filterLabel.alleleFreq Allele Frequency
filterByRange.alleleCount on
filterLabel.alleleCount Allele Count
skipEmptyFields on
+ priority 2
- track tommoJpSv
+ track onekg3202Sr
parent lrSv
- bigDataUrl /gbdb/$D/lrSv/tommoJp.bb
- shortLabel ToMMo Japanese SVs
- longLabel Structural Variants from 333 Japanese Individuals (ToMMo, 111 Trios)
+ bigDataUrl /gbdb/$D/lrSv/onekg3202sr.bb
+ shortLabel 1KG 3202 SR SVs
+ longLabel 1000 Genomes 3202-sample Illumina SHORT-READ GATK-SV callset (Byrska-Bishop 2022) - included for comparison
type bigBed 9 +
itemRgb on
visibility dense
- mouseOver $name ($svType) len=$svLen AF=$alleleFreq AC=$alleleCount
- filterValues.svType DEL,INS
+ mouseOver $name ($svType) len=$svLen AF=$alleleFreq AC=$alleleCount/$alleleNumber popMax=$popmaxAf
+ filterValues.svType DEL,INS,DUP,INV,CPX,CTX,CNV
filterType.svType multipleListOr
filterLabel.svType SV Type
- filter.svLen 51:99980
+ filter.svLen 0:154807729
filterByRange.svLen on
filterLabel.svLen SV Length
filter.alleleFreq 0:1
filterByRange.alleleFreq on
filterLimits.alleleFreq 0:1
- filterLabel.alleleFreq Allele Frequency
- filter.alleleCount 0:444
- filterByRange.alleleCount on
- filterLabel.alleleCount Allele Count
+ filterLabel.alleleFreq Allele Frequency (all)
+ filter.popmaxAf 0:1
+ filterByRange.popmaxAf on
+ filterLimits.popmaxAf 0:1
+ filterLabel.popmaxAf Population Max AF
+ filter.afAfr 0:1
+ filterByRange.afAfr on
+ filterLimits.afAfr 0:1
+ filterLabel.afAfr AF African
+ filter.afEur 0:1
+ filterByRange.afEur on
+ filterLimits.afEur 0:1
+ filterLabel.afEur AF European
+ skipEmptyFields on
+
+ track gustafsonSv
+ parent lrSv
+ bigDataUrl /gbdb/$D/lrSv/gustafson.bb
+ shortLabel 1KG ONT 100 SVs
+ longLabel Structural Variants from 100 1000 Genomes ONT Samples (Gustafson et al. 2024)
+ type bigBed 9 +
+ itemRgb on
+ visibility dense
+ mouseOver $name ($svType) len=$svLen samples=$sampleCount
+ filterValues.svType DEL,INS,DUP,INV
+ filterType.svType multipleListOr
+ filterLabel.svType SV Type
+ filter.svLen 0:98289
+ filterByRange.svLen on
+ filterLabel.svLen SV Length
+ filter.sampleCount 1:100
+ filterByRange.sampleCount on
+ filterLabel.sampleCount Number of Carrier Samples
+ skipEmptyFields on
+ priority 3
track aou1kSv
parent lrSv
bigDataUrl /gbdb/$D/lrSv/aou1k.bb
shortLabel AoU 1K SVs
longLabel Structural Variants from 1,027 AoU Individuals (PacBio HiFi Long-read)
type bigBed 9 +
itemRgb on
visibility dense
mouseOver $name ($svType) len=$svLen AF_AFR=$afAfr AF_EUR=$afEur
filterValues.svType DEL,INS
filterType.svType multipleListOr
filterLabel.svType SV Type
#filter.svLen 50:9998
filterByRange.svLen on
filterLabel.svLen SV Length
#filter.afAfr 0:1
filterByRange.afAfr on
filterLimits.afAfr 0:1
filterLabel.afAfr AF African
#filter.afEur 0:1
filterByRange.afEur on
filterLimits.afEur 0:1
filterLabel.afEur AF European
#filter.afEas 0:1
filterByRange.afEas on
filterLimits.afEas 0:1
filterLabel.afEas AF East Asian
skipEmptyFields on
+ track han945Sv
+ parent lrSv
+ bigDataUrl /gbdb/$D/lrSv/han945.bb
+ shortLabel Han 945 SVs
+ longLabel Structural Variants from 945 Han Chinese (Long-read Sequencing)
+ type bigBed 9 +
+ itemRgb on
+ visibility dense
+ mouseOver $name ($svType) len=$svLen AF=$alleleFreq samples=$sampleCount
+ filterValues.svType DEL,INS,DUP,INV,TRA
+ filterType.svType multipleListOr
+ filterLabel.svType SV Type
+ filter.svLen 0:99743
+ filterByRange.svLen on
+ filterLabel.svLen SV Length
+ filter.sampleCount 1:945
+ filterByRange.sampleCount on
+ filterLabel.sampleCount Number of Supporting Samples
+ filter.alleleFreq 0:1
+ filterByRange.alleleFreq on
+ filterLimits.alleleFreq 0:1
+ filterLabel.alleleFreq Allele Frequency
+ skipEmptyFields on
+ urls chr2="hgTracks?position=$$"
+
+ track tommoJpSv
+ parent lrSv
+ bigDataUrl /gbdb/$D/lrSv/tommoJp.bb
+ shortLabel ToMMo Japanese SVs
+ longLabel Structural Variants from 333 Japanese Individuals (ToMMo, 111 Trios)
+ type bigBed 9 +
+ itemRgb on
+ visibility dense
+ mouseOver $name ($svType) len=$svLen AF=$alleleFreq AC=$alleleCount
+ filterValues.svType DEL,INS
+ filterType.svType multipleListOr
+ filterLabel.svType SV Type
+ filter.svLen 51:99980
+ filterByRange.svLen on
+ filterLabel.svLen SV Length
+ filter.alleleFreq 0:1
+ filterByRange.alleleFreq on
+ filterLimits.alleleFreq 0:1
+ filterLabel.alleleFreq Allele Frequency
+ filter.alleleCount 0:444
+ filterByRange.alleleCount on
+ filterLabel.alleleCount Allele Count
+
track ga4kSv
parent lrSv
bigDataUrl /gbdb/$D/lrSv/ga4kSv.bb
shortLabel GA4K SVs
longLabel Structural Variants from 502 Children's Mercy GA4K Probands and Families (PacBio HiFi)
type bigBed 9 +
itemRgb on
visibility dense
mouseOver $name ($svType) len=$svLen AF=$alleleFreq carriers=$carrierCount/$sampleTotal
filterValues.svType DEL,INS,DUP,INV
filterType.svType multipleListOr
filterLabel.svType SV Type
filter.svLen 0:809711
filterByRange.svLen on
filterLabel.svLen SV Length
@@ -137,35 +214,89 @@
bigDataUrl /gbdb/$D/lrSv/decodeSv.bb
shortLabel deCODE 3,622 SVs
longLabel High-confidence Structural Variants from 3,622 Icelanders (deCODE, Oxford Nanopore)
type bigBed 9 +
itemRgb on
visibility dense
mouseOver $name ($svType) len=$svLen
filterValues.svType DEL,INS,INSDEL
filterType.svType multipleListOr
filterLabel.svType SV Type
filter.svLen 0:861080
filterByRange.svLen on
filterLabel.svLen SV Length
skipEmptyFields on
+ track hprc2Sv
+ parent lrSv
+ bigDataUrl /gbdb/$D/lrSv/hprc2.bb
+ shortLabel HPRC v2 SVs
+ longLabel Structural Variants from the HPRC v2 Pangenome Graph (233 Samples, minigraph-cactus + vcfwave)
+ type bigBed 9 +
+ itemRgb on
+ visibility dense
+ mouseOver $name ($svType) len=$svLen AF=$alleleFreq AC=$alleleCount/$alleleNumber samples=$nSamples
+ filterValues.svType INS,DEL,COMPLEX,INV
+ filterType.svType multipleListOr
+ filterLabel.svType SV Type
+ filter.svLen 50:97718
+ filterByRange.svLen on
+ filterLabel.svLen SV Length
+ filter.alleleFreq 0:1
+ filterByRange.alleleFreq on
+ filterLimits.alleleFreq 0:1
+ filterLabel.alleleFreq Allele Frequency
+ filter.snarlLevel 0:10
+ filterByRange.snarlLevel on
+ filterLabel.snarlLevel Snarl Level
+ skipEmptyFields on
+
+ track hgsvc2Sv
+ parent lrSv
+ bigDataUrl /gbdb/$D/lrSv/hgsvc2.bb
+ shortLabel HGSVC2 32 SVs
+ longLabel Structural Variants from 32 Haplotype-Resolved Genomes (HGSVC2 freeze 4, Ebert et al. 2021)
+ type bigBed 9 +
+ itemRgb on
+ visibility dense
+ mouseOver $name ($svType) len=$svLen samples=$sampleCount alleles=$alleleCount AF=$popAllAf
+ filterValues.svType DEL,INS,INV
+ filterType.svType multipleListOr
+ filterLabel.svType SV Type
+ filter.svLen 0:57207414
+ filterByRange.svLen on
+ filterLabel.svLen SV Length
+ filter.alleleCount 1:35
+ filterByRange.alleleCount on
+ filterLabel.alleleCount Allele Count (carrier haplotypes)
+ filter.sampleCount 1:35
+ filterByRange.sampleCount on
+ filterLabel.sampleCount Sample Count
+ filterValues.refTrf True,False
+ filterType.refTrf multipleListOr
+ filterLabel.refTrf In Tandem Repeat
+ filter.refSd 0:1
+ filterByRange.refSd on
+ filterLimits.refSd 0:1
+ filterLabel.refSd Segmental Duplication Overlap
+ skipEmptyFields on
+
track hgsvc3Sv
parent lrSv
bigDataUrl /gbdb/$D/lrSv/hgsvc3.bb
shortLabel HGSVC3 65 SVs
- longLabel Structural Variants from 65 Diverse Samples (HGSVC3, Haplotype-Resolved Long-read Assemblies)
+ longLabel Structural Variants from 65 Diverse Samples (HGSVC3 ONT+HIFI)
type bigBed 9 +
itemRgb on
visibility dense
mouseOver $name ($svType) len=$svLen samples=$sampleCount alleles=$alleleCount
filterValues.svType DEL,INS,INV
filterType.svType multipleListOr
filterLabel.svType SV Type
filter.svLen 0:30176500
filterByRange.svLen on
filterLabel.svLen SV Length
filter.alleleCount 1:136
filterByRange.alleleCount on
filterLabel.alleleCount Allele Count (carrier haplotypes)
filter.sampleCount 1:65
filterByRange.sampleCount on
@@ -203,30 +334,72 @@
filterLabel.afPd Allele Frequency (PD)
filter.afHc 0:1
filterByRange.afHc on
filterLimits.afHc 0:1
filterLabel.afHc Allele Frequency (HC)
filter.afIlbd 0:1
filterByRange.afIlbd on
filterLimits.afIlbd 0:1
filterLabel.afIlbd Allele Frequency (ILBD)
filter.differentialRate -1:1
filterByRange.differentialRate on
filterLimits.differentialRate -1:1
filterLabel.differentialRate Case-Control Differential (case - control)
skipEmptyFields on
+ track aprSv
+ parent lrSv
+ bigDataUrl /gbdb/$D/lrSv/apr.bb
+ shortLabel Arab APR 53 SVs
+ longLabel Structural Variants from Arabic Pangenome Reference (53 UAE-resident Arab samples)
+ type bigBed 9 +
+ itemRgb on
+ visibility dense
+ mouseOver $name ($svType) len=$svLen AC=$alleleCount/$alleleNumber AF=$alleleFreq samples=$numSamples alts=$numAlts
+ filterValues.svType INS,DEL,CPX,MIXED
+ filterType.svType multipleListOr
+ filterLabel.svType SV Type
+ filterByRange.svLen on
+ filterLabel.svLen SV Length
+ filterByRange.alleleFreq on
+ filterLimits.alleleFreq 0:1
+ filterLabel.alleleFreq Allele Frequency
+ filterByRange.alleleCount on
+ filterLabel.alleleCount Allele Count
+ skipEmptyFields on
+
+ track cpc1Sv
+ parent lrSv
+ bigDataUrl /gbdb/$D/lrSv/cpc1.bb
+ shortLabel CPC+HPRC 105 SVs
+ longLabel Structural Variants from CPC + HPRC Phase 1 Pangenome (105 samples, 58 Chinese + 47 HPRC)
+ type bigBed 9 +
+ itemRgb on
+ visibility dense
+ mouseOver $name ($svType) len=$svLen AC=$alleleCount/$alleleNumber AF=$alleleFreq samples=$numSamples alts=$numAlts
+ filterValues.svType INS,DEL,CPX,MIXED
+ filterType.svType multipleListOr
+ filterLabel.svType SV Type
+ filterByRange.svLen on
+ filterLabel.svLen SV Length
+ filterByRange.alleleFreq on
+ filterLimits.alleleFreq 0:1
+ filterLabel.alleleFreq Allele Frequency
+ filterByRange.alleleCount on
+ filterLabel.alleleCount Allele Count
+ skipEmptyFields on
+
track chirmade101Sv
parent lrSv
bigDataUrl /gbdb/$D/lrSv/chirmade101.bb
shortLabel SVatalog 101 SVs
longLabel Structural Variants from 101 Long-read Whole-Genome Sequences (GWAS SVatalog, Chirmade et al. 2026)
type bigBed 9 +
itemRgb on
visibility dense
mouseOver $name ($svType) len=$svLen genes=$geneCount
filterValues.svType del,ins,dup,inv,complex
filterType.svType multipleListOr
filterLabel.svType SV Type
filter.svLen 0:1321484
filterByRange.svLen on
filterLabel.svLen SV Length