95208355e2c667d194b29ee78c8ca8a09c2c2596
max
Fri Jul 17 08:51:28 2026 -0700
lrSv: add NIH CARD long-read SV subtrack (cardSv)
#Preview2 week - bugs introduced now will need a build patch to fix
Add the NIH CARD Long-Read Initiative structural-variant catalogue (351
post-mortem brain samples: 205 NABEC European ancestry, 146 HBCC
African/African-admixed) as a new subtrack of the Long-read SVs container.
The provider bigBed is re-derived into the shared lrSv schema: signed svLen
made positive (reference span), an explicit insLen added, the single
DUP:TANDEM folded to DUP, and colors remapped to the container's shared
svColor() palette. All 228,855 provider records are carried through 1:1.
Adds the converter and autoSql, the trackDb stanza with filters consistent
with the sibling subtracks, a full description page, a summary row and blurb
on the container page, and a makeDoc section. refs #36258
diff --git src/hg/makeDb/trackDb/human/lrSv.ra src/hg/makeDb/trackDb/human/lrSv.ra
index 69d5b38a81e..bfb4f3ba0be 100644
--- src/hg/makeDb/trackDb/human/lrSv.ra
+++ src/hg/makeDb/trackDb/human/lrSv.ra
@@ -501,30 +501,62 @@
mouseOver Var: $name ($svType)
SV len: $svLen
Ins len: $insLen
Genes: $geneCount
filterValues.svType DEL,INS,DUP,INV,CPX
filterType.svType multipleListOr
filterLabel.svType SV Type
filter.svLen 0:1321484
filterByRange.svLen on
filterLabel.svLen SV Length
filter.insLen 0:31711
filterByRange.insLen on
filterLabel.insLen Insertion Length
filter.geneCount 0:200
filterByRange.geneCount on
filterLabel.geneCount Gene Count
skipEmptyFields on
+ track cardSv
+ parent longReadVariants
+ bigDataUrl /gbdb/$D/lrSv/card.bb
+ shortLabel CARD 351 SVs
+ longLabel Structural Variants from 351 Brain Samples (NIH CARD Long-read ONT, NABEC + HBCC)
+ type bigBed 9 +
+ itemRgb on
+ visibility hide
+ mouseOver Var: ${name} (${svType})
SV len: ${svLen}
Ins len: ${insLen}
AF: ${alleleFreq}
Carriers: ${AC} (NABEC ${nabecCount}, HBCC ${hbccCount})
+ filterValues.svType DEL,INS,INV,DUP
+ filterType.svType multipleListOr
+ filterLabel.svType SV Type
+ filter.svLen 0:30282742
+ filterByRange.svLen on
+ filterLabel.svLen SV Length
+ filter.insLen 0:92867161
+ filterByRange.insLen on
+ filterLabel.insLen Insertion Length
+ filter.AC 1:351
+ filterByRange.AC on
+ filterLabel.AC Carrier Count
+ filter.alleleFreq 0:1
+ filterByRange.alleleFreq on
+ filterLimits.alleleFreq 0:1
+ filterLabel.alleleFreq Allele Frequency
+ filter.nabecCount 0:205
+ filterByRange.nabecCount on
+ filterLabel.nabecCount NABEC Carriers (European ancestry)
+ filter.hbccCount 0:146
+ filterByRange.hbccCount on
+ filterLabel.hbccCount HBCC Carriers (African/African-admixed ancestry)
+
# NOT FOR RELEASE: data received from Eichler lab via email, not yet published.
# Do not add to lrSvAll merged track until a preprint or paper is available.
track lrSv1kLin
parent longReadVariants
release alpha
bigDataUrl /gbdb/$D/lrSv/lin1218.bb
shortLabel 1KG Linear 1218 SVs
longLabel Structural Variants from 1,218 Individuals (1000 Genomes, Linear Long-read)
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