78cdae7249c8609dcbc743e996ea7e5eec33d75a max Mon Aug 17 08:15:39 2026 -0700 lrSv: fix off-by-one anchor base in deletion coordinates across converters, refs #38099 VCF/pangenome deletions carry a non-deleted anchor (padding) base at POS. Several lrSv converters set chromStart = pos-1, which includes that anchor, so each deletion was 1 bp too wide on the left and svLen was 1 too big. Callsets handled this inconsistently, so the same deletion appeared at offset coordinates and failed to merge in lrSvAll. For deletions only (INS/INV/CPX unchanged), advance chromStart past the anchor so the interval covers exactly the deleted bases (svLen == |SVLEN|). Verified against the hg38 reference: the old left base is present in both REF and ALT (i.e. retained by the sample), so it should not be inside the deletion. Fixed 11 converters: lrSv1kLin1218VcfToBed, lrSv1kgOntVcfToBed, lrSvGustafsonVcfToBed, lrSvGa4kSvVcfToBed, lrSvDecodeVcfToBed, lrSvAou1kCsvToBed, lrSvColorsDbSvVcfToBed, lrSvCardBbToBed, lrSvAprVcfToBed, lrSvCpc1VcfToBed, lrSvVcfToBed (generic, used by han945). Left unchanged, verified already anchor-correct: hgsvc3 and hgsvc2 (0-based source), hprc2v21 (Ro converter prefix-trims), noyvert/tommoJp (POS is the first deleted base), chirmade101 (1-based-closed source). Rebuilt all affected bigBeds (hg38 + hs1 where present) and the lrSvAll merge: 3,111,026 -> 2,963,093 rows as ~148k duplicate deletions now merge. diff --git src/hg/makeDb/scripts/lrSv/lrSvCardBbToBed.py src/hg/makeDb/scripts/lrSv/lrSvCardBbToBed.py index 0b8fd2ce266..5d70a416ceb 100755 --- src/hg/makeDb/scripts/lrSv/lrSvCardBbToBed.py +++ src/hg/makeDb/scripts/lrSv/lrSvCardBbToBed.py @@ -59,30 +59,36 @@ continue nIn += 1 f = line.rstrip("\n").split("\t") chrom = f[0] chromStart = int(f[1]) chromEnd = int(f[2]) svTypeRaw = f[9] svLenSigned = int(f[10]) alleleFreq = fmtAf(f[11]) alleleCount = int(f[12]) nabecAc = int(f[13]) hbccAc = int(f[14]) svType = normalizeSvType(TYPE_FIX.get(svTypeRaw, svTypeRaw)) + # The source bigBed keeps the VCF anchor base on the left of + # deletions; drop it so DEL coordinates match anchor-excluded + # callsets (svLen below is recomputed from the shifted start). + if svType == "DEL": + chromStart += 1 + # Canonical svLen is the feature's span on the reference; for INS # that is 1 bp, and the inserted-sequence length lives in insLen. svLen = chromEnd - chromStart if svType == "INS": insLen = abs(svLenSigned) else: insLen = 0 # CARD now publishes diploid allele counts, matching the # supertrack's AC convention directly. ac = alleleCount featLen = insLen if svType == "INS" else svLen name = svName(svType, featLen, ac) color = svColor(svType)