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/lrSvAou1kCsvToBed.py src/hg/makeDb/scripts/lrSv/lrSvAou1kCsvToBed.py index e0c36c99526..7bcf2751e58 100644 --- src/hg/makeDb/scripts/lrSv/lrSvAou1kCsvToBed.py +++ src/hg/makeDb/scripts/lrSv/lrSvAou1kCsvToBed.py @@ -58,30 +58,34 @@ for row in reader: nIn += 1 coord = row[0] # chr1:10627 svTypeRaw = row[2] svType = normalizeSvType(svTypeRaw) svLenSrc = int(row[3]) # Parse coordinate (1-based position) chrom, posStr = coord.split(":") pos = int(posStr) # BED is 0-based half-open chromStart = pos - 1 if svType == "DEL": + # POS is the non-deleted anchor base; the deleted region starts + # one base to the right. Shift the whole interval right so it + # covers only the deleted bases (span stays svLenSrc == |SVLEN|). + chromStart += 1 chromEnd = chromStart + svLenSrc else: # INS: place at insertion site, 1 bp wide chromEnd = chromStart + 1 svLen = chromEnd - chromStart # insLen: the source "SV length" represents the INS payload for INS # and 0 for DEL (where it equals reference span) if svType in ("INS", "MEI"): insLen = svLenSrc else: insLen = 0 color = svColor(svType)