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/lrSv1kgOntVcfToBed.py src/hg/makeDb/scripts/lrSv/lrSv1kgOntVcfToBed.py index cb2cfe65186..0ad6e60fc8a 100644 --- src/hg/makeDb/scripts/lrSv/lrSv1kgOntVcfToBed.py +++ src/hg/makeDb/scripts/lrSv/lrSv1kgOntVcfToBed.py @@ -89,30 +89,36 @@ continue fields = line.rstrip("\n").split("\t") chrom = fields[0] pos = int(fields[1]) varId = fields[2] ref = fields[3] info = parseInfo(fields[7]) svTypeRaw = getSvClass(varId) svType = normalizeSvType(svTypeRaw) # BED coordinates: 0-based half-open chromStart = pos - 1 chromEnd = chromStart + len(ref) + # VCF POS is the anchor base (in REF and ALT); it is not part of a + # deletion, so drop it from the left of DEL intervals. chromEnd + # already points one past the last deleted base, so only chromStart + # moves. INS keeps the anchor-based position. + if svType == "DEL": + chromStart += 1 # Source lengths: INS_LEN for insertion size, DEL_LEN for deletion size insLenSrc = int(info.get("INS_LEN", "0")) delLenSrc = int(info.get("DEL_LEN", "0")) # For INS, the item spans only the anchor base; expand by 1 for visibility if svType == "INS" and chromEnd <= chromStart + 1: chromEnd = chromStart + 1 # svLen = span on reference svLen = chromEnd - chromStart # insLen = length of inserted sequence (INS only); 0 otherwise if svType == "INS": insLen = insLenSrc elif svType == "DEL":