b687dd9018670941ce30f8a4582d6597c5a974d8
lrnassar
Tue Sep 1 14:57:43 2026 -0700
lrSv1kLin: fix 2bp insertion span, drop dead numConsolidated field, refresh lrSvAll merge. refs #38099
The Lin 1218 VCFs set INFO/END = POS+1 on insertions, and the converter took
chromEnd from END, so every insertion was drawn 2bp wide with svLen 2 instead
of the 1bp anchor base. That contradicted the track's own description page and
the coordinate convention in the makeDoc, and it kept 107,980 Lin insertions
from merging in lrSvAll. Insertions now clamp chromEnd to the anchor; deletions
are unchanged and still verify span == |SVLEN| against the source VCFs.
Dropped numConsolidated from the converter and the .as: the NumConsolidated
INFO key is declared in the VCF header but never appears on a data line, so the
column was 0 on all 1.2M rows and added a meaningless line to every detail page.
Rebuilt lin1218 on hg38 and hs1 (item counts and variant names unchanged) and
re-ran the merge: lrSvAll 2,963,093 -> 2,855,267 rows as the duplicate insertion
rows collapse.
Bumped seven filter.svLen/insLen maxima in lrSv.ra that were short of the data
after the August deletion narrowing, three of them only visible on hs1.
lrSvAll.html said the 1000 Genomes linear set was not in the merge, which is no
longer true, and gave no warning that sourceCount double-counts because Lin1218
already absorbs HPRC, HGSVC3 and both 1KG ONT callsets. Corrected the merge key
description and refreshed ten stale cells in the lrSv.html summary table.
diff --git src/hg/makeDb/trackDb/human/lrSv.ra src/hg/makeDb/trackDb/human/lrSv.ra
index 11a432fa725..c8265b73f02 100644
--- src/hg/makeDb/trackDb/human/lrSv.ra
+++ src/hg/makeDb/trackDb/human/lrSv.ra
@@ -29,31 +29,31 @@
track colorsDbSv
parent longReadVariants
priority 1
bigDataUrl /gbdb/$D/lrSv/colorsDb/sv.$D.bb
shortLabel CoLoRSdb 1427 SVs
longLabel Structural Variants from 1,427 CoLoRSdb samples (Consortium of Long-Read Sequencing, PacBio HiFi)
type bigBed 9 +
itemRgb on
visibility hide
dataVersion v1.2.0
mouseOver Var: $name ($svType)
SV len: $svLen
Ins len: $insLen
AF: $AF
AC: $AC/$AN (Hom $acHom, Het $acHet, Hemi $acHemi)
Samples: $NS
filterValues.svType DEL,INS,INV,DUP
filterType.svType multipleListOr
filterLabel.svType SV Type
- filter.svLen 0:101381
+ filter.svLen 0:111110
filterByRange.svLen on
filterLabel.svLen SV Length (bp)
filter.insLen 0:18724
filterByRange.insLen on
filterLabel.insLen Insertion Length (bp)
filter.AC 0:2854
filterByRange.AC on
filterLabel.AC Alt Allele Count (AC)
filter.AF 0:1
filterByRange.AF on
filterLimits.AF 0:1
filterLabel.AF Allele Frequency (AF)
skipEmptyFields on
track lrSv1kgOnt
@@ -91,31 +91,31 @@
dataVersion 1.1
track gustafsonSv
parent longReadVariants
priority 5
bigDataUrl /gbdb/$D/lrSv/gustafson.bb
shortLabel 1KG UW ONT SVs
longLabel Structural Variants from 100 1000 Genomes samples (University of Washington ONT; Gustafson et al. 2024)
type bigBed 9 +
itemRgb on
visibility hide
mouseOver Var: $name ($svType)
SV len: $svLen
Ins len: $insLen
AC: $AC
Samples: $sampleCount
filterValues.svType DEL,INS,DUP,INV
filterType.svType multipleListOr
filterLabel.svType SV Type
- filter.svLen 0:98289
+ filter.svLen 0:98290
filterByRange.svLen on
filterLabel.svLen SV Length
filter.insLen 0:25094
filterByRange.insLen on
filterLabel.insLen Insertion Length
filter.AC 0:200
filterByRange.AC on
filterLabel.AC Allele Count (placeholder)
filter.sampleCount 1:100
filterByRange.sampleCount on
filterLabel.sampleCount Number of Carrier Samples
skipEmptyFields on
track noyvertSv
parent longReadVariants
@@ -177,31 +177,31 @@
skipEmptyFields on
track lrSv1kLin
parent longReadVariants
priority 3
bigDataUrl /gbdb/$D/lrSv/lin1218.bb
shortLabel 1KG Lin 1218 SVs
longLabel Structural Variants from 1,218 1000 Genomes samples (long-read merge; Lin et al.)
type bigBed 9 +
itemRgb on
visibility hide
mouseOver Var: $name ($svType)
SV len: $svLen
Ins len: $insLen
AC: $AC/$AN
AF: $AF
AF (African): $afAfr
AF (European): $afEur
Samples: $NS
filterValues.svType DEL,INS
filterType.svType multipleListOr
filterLabel.svType SV Type
- filter.svLen 0:99565
+ filter.svLen 0:99691
filterByRange.svLen on
filterLabel.svLen SV Length (bp)
filter.insLen 0:99968
filterByRange.insLen on
filterLabel.insLen Insertion Length (bp)
filter.AC 0:2436
filterByRange.AC on
filterLabel.AC Allele Count
filter.AF 0:1
filterByRange.AF on
filterLimits.AF 0:1
filterLabel.AF Allele Frequency
filter.afAfr 0:1
filterByRange.afAfr on
filterLimits.afAfr 0:1
@@ -261,31 +261,31 @@
skipEmptyFields on
track han945Sv
parent longReadVariants
priority 12
bigDataUrl /gbdb/$D/lrSv/han945.bb
shortLabel Han 945 SVs
longLabel Structural Variants from 945 Han Chinese samples (long-read)
type bigBed 9 +
itemRgb on
visibility hide
mouseOver Var: $name ($svType)
SV len: $svLen
Ins len: $insLen
AF: $alleleFreq
AC: $AC
Samples: $sampleCount
filterValues.svType DEL,INS,DUP,INV,TRA
filterType.svType multipleListOr
filterLabel.svType SV Type
- filter.svLen 0:99743
+ filter.svLen 0:99744
filterByRange.svLen on
filterLabel.svLen SV Length
filter.insLen 0:27242
filterByRange.insLen on
filterLabel.insLen Insertion Length
filter.AC 0:1890
filterByRange.AC on
filterLabel.AC Allele Count (approx 2*SUPP)
filter.sampleCount 1:945
filterByRange.sampleCount on
filterLabel.sampleCount Number of Supporting Samples
filter.alleleFreq 0:1
filterByRange.alleleFreq on
filterLimits.alleleFreq 0:1
filterLabel.alleleFreq Allele Frequency
@@ -320,31 +320,31 @@
filterLabel.AC Allele Count
track ga4kSv
parent longReadVariants
priority 16
bigDataUrl /gbdb/$D/lrSv/ga4kSv.bb
shortLabel GA4K 502 SVs
longLabel Structural Variants from 502 GA4K samples (Children's Mercy, pediatric rare disease; PacBio HiFi)
type bigBed 9 +
itemRgb on
visibility hide
mouseOver Var: $name ($svType)
SV len: $svLen
Ins len: $insLen
AC (approx): $AC
AF: $alleleFreq
Carriers: $carrierCount/$sampleTotal
filterValues.svType DEL,INS,DUP,INV
filterType.svType multipleListOr
filterLabel.svType SV Type
- filter.svLen 0:809711
+ filter.svLen 0:809712
filterByRange.svLen on
filterLabel.svLen SV Length
filter.insLen 0:14923
filterByRange.insLen on
filterLabel.insLen Insertion Length
filter.AC 0:996
filterByRange.AC on
filterLabel.AC Allele Count (approx)
filter.alleleFreq 0:1
filterByRange.alleleFreq on
filterLimits.alleleFreq 0:1
filterLabel.alleleFreq Allele Frequency
filter.carrierCount 1:498
filterByRange.carrierCount on
filterLabel.carrierCount Number of Carrier Samples
@@ -557,61 +557,61 @@
skipEmptyFields on
track aprSv
parent longReadVariants
priority 15
bigDataUrl /gbdb/$D/lrSv/apr.bb
shortLabel Arab APR 53 SVs
longLabel Structural Variants from 53 Arab Pangenome Reference samples (UAE-resident; HiFi + ONT)
type bigBed 9 +
itemRgb on
visibility hide
mouseOver Var: $name ($svType)
SV len: $svLen
Ins len: $insLen
AC: $AC/$alleleNumber
AF: $alleleFreq
Samples: $numSamples
Alts: $numAlts
filterValues.svType INS,DEL,CPX,MIXED
filterType.svType multipleListOr
filterLabel.svType SV Type
- filter.svLen 0:99885
+ filter.svLen 0:99892
filterByRange.svLen on
filterLabel.svLen SV Length
filter.insLen 0:584016
filterByRange.insLen on
filterLabel.insLen Insertion Length
filter.AC 0:107
filterByRange.AC on
filterLabel.AC Allele Count
filterByRange.alleleFreq on
filterLimits.alleleFreq 0:1
filterLabel.alleleFreq Allele Frequency
skipEmptyFields on
track cpc1Sv
parent longReadVariants
priority 13
bigDataUrl /gbdb/$D/lrSv/cpc1.bb
shortLabel CPC 58 SVs
longLabel Structural Variants from 58 Chinese Pangenome Consortium samples (CPC-only; HiFi)
type bigBed 9 +
itemRgb on
visibility hide
mouseOver Var: $name ($svType)
SV len: $svLen
Ins len: $insLen
AC: $AC/$alleleNumber
AF: $alleleFreq
Samples: $numSamples
Alts: $numAlts
filterValues.svType INS,DEL,CPX,MIXED
filterType.svType multipleListOr
filterLabel.svType SV Type
filter.svLen 0:8998096
filterByRange.svLen on
filterLabel.svLen SV Length
- filter.insLen 0:376583
+ filter.insLen 0:414249
filterByRange.insLen on
filterLabel.insLen Insertion Length
filter.AC 0:116
filterByRange.AC on
filterLabel.AC Allele Count
filterByRange.alleleFreq on
filterLimits.alleleFreq 0:1
filterLabel.alleleFreq Allele Frequency
skipEmptyFields on
track chirmade101Sv
parent longReadVariants
priority 17
bigDataUrl /gbdb/$D/lrSv/chirmade101.bb
shortLabel SVatalog 101 SVs