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/lrSvGustafsonVcfToBed.py src/hg/makeDb/scripts/lrSv/lrSvGustafsonVcfToBed.py index 8aa12b9e016..70dc5bdbdda 100644 --- src/hg/makeDb/scripts/lrSv/lrSvGustafsonVcfToBed.py +++ src/hg/makeDb/scripts/lrSv/lrSvGustafsonVcfToBed.py @@ -69,30 +69,35 @@ try: supp = int(info.get("SUPP", "0")) except ValueError: supp = 0 try: varCalls = int(info.get("VARCALLS", "0")) except ValueError: varCalls = 0 precise = 1 if "PRECISE" in info else 0 strands = info.get("STRANDS", "") if strands == "??": strands = "" chromStart = pos - 1 chromEnd = end + # POS is the non-deleted anchor base; drop it from the left of DEL + # intervals so svLen == |SVLEN| and coordinates match anchor-excluded + # callsets. INS/other keep the anchor-based position. + if svType == "DEL": + chromStart += 1 if chromEnd <= chromStart: chromEnd = chromStart + 1 if chrom == "chrM" and chromEnd > CHRM_LEN: chromEnd = CHRM_LEN svLen = chromEnd - chromStart if svType in ("INS", "MEI"): insLen = abs(svLenRaw) else: insLen = 0 # Gustafson callset is site-level without AC; 2 * SUPP # is the diploid carrier upper bound. ac = supp * 2