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/lrSvVcfToBed.py src/hg/makeDb/scripts/lrSv/lrSvVcfToBed.py index 6c48315c4d2..65eb708f1af 100644 --- src/hg/makeDb/scripts/lrSv/lrSvVcfToBed.py +++ src/hg/makeDb/scripts/lrSv/lrSvVcfToBed.py @@ -55,30 +55,35 @@ end = int(info.get("END", pos)) svLenRaw = int(float(info.get("SVLEN", "0"))) af = float(info.get("AF", "0")) supp = int(info.get("SUPP", "0")) ciPos = info.get("CIPOS", "0,0") ciEnd = info.get("CIEND", "0,0") chr2 = info.get("CHR2", ".") strands = info.get("STRANDS", "+-") suppVec = info.get("SUPP_VEC", "") # BED is 0-based half-open chromStart = pos - 1 # For INS, END == POS so the item has zero width; expand by 1 bp chromEnd = end + # For symbolic <DEL>, VCF POS is the padding base before the event + # (not deleted); the deleted region is [POS+1, END]. Drop the padding + # base from the left so svLen == |SVLEN|. Only DEL moves. + if svType == "DEL": + chromStart += 1 if chromEnd <= chromStart: chromEnd = chromStart + 1 # Score: map QUAL to 0-1000 try: score = min(int(round(float(qual) * 2)), 1000) except ValueError: score = 0 # Strand from first character of STRANDS field strand = strands[0] if strands and strands[0] in "+-" else "." color = svColor(svType) # sampleList from SUPP_VEC