7594507ca126d5242346787e42e13c52ea7709b1 max Fri Apr 17 08:40:31 2026 -0700 Add lrSv supertrack: long-read structural variants from 9 studies (hg38). #Preview2 week - bugs introduced now will need a build patch to fix Sub-tracks (all bigBed 9+): han945Sv - 945 Han Chinese, ONT (Gong 2025, PMID 39929826) lrSv1kgOnt - 1019 1000 Genomes, ONT, SVAN-annotated (Schloissnig 2025, PMID 40702182; lifted from hs1) tommoJpSv - 333 Japanese (111 trios), ONT (Otsuki 2022, PMID 36127505) aou1kSv - 1027 All of Us, PacBio HiFi (Garimella 2025, PMID 41256123) ga4kSv - 502 GA4K pediatric rare disease, PacBio HiFi (Cohen 2022, PMID 35305867) decodeSv - 3622 Icelanders, ONT (Beyter 2021, PMID 33972781) hgsvc3Sv - 65 HGSVC3 diverse haplotype-resolved assemblies, HiFi+ONT (Logsdon 2025, PMID 40702183; merges insdel+inv tables) kwanhoSv - 100 post-mortem brains (PD/ILBD/HC), PacBio HiFi (Kim 2026, PMID 41929179) chirmade101Sv - 101 long-read WGS GWAS SVatalog cohort (Chirmade 2026, PMID 41203876) Includes per-track conversion scripts and autoSql under scripts/lrSv/, the supertrack summary table in lrSv.html, and a consolidated makeDoc at doc/hg38/lrSv.txt. refs #36258 Co-Authored-By: Claude Opus 4.7 (1M context) <noreply@anthropic.com> diff --git src/hg/makeDb/scripts/lrSv/lrSv1kgOnt.as src/hg/makeDb/scripts/lrSv/lrSv1kgOnt.as new file mode 100644 index 00000000000..85ed87eb1db --- /dev/null +++ src/hg/makeDb/scripts/lrSv/lrSv1kgOnt.as @@ -0,0 +1,29 @@ +table lrSv1kgOnt +"Long-read structural variants from 1000 Genomes ONT" + ( + string chrom; "Chromosome" + uint chromStart; "Start position" + uint chromEnd; "End position" + string name; "Variant ID" + uint score; "Score" + char[1] strand; "Strand" + uint thickStart; "Thick start (same as chromStart)" + uint thickEnd; "Thick end (same as chromEnd)" + uint reserved; "Item color" + string svClass; "SV Class|INS, DEL, or COMPLEX" + int svLen; "SV Length|Length of the structural variant in base pairs" + string insType; "Insertion/Deletion Type|solo, partnered, orphan, VNTR, PSD, NUMT, DUP, etc." + string family; "Transposon Family|Alu, L1, SVA, HERVK, LTR5_Hs, etc." + float percResolved; "Percent Resolved|Percentage of inserted sequence resolved by SVAN" + int tsdLen; "TSD Length|Target site duplication length in base pairs" + int polyaLen; "Poly-A Length|Poly-A tail length in base pairs" + string conformation; "Conformation|Structural conformation of the insertion" + int rtLen; "Retrotransposon Length|Length of the retrotransposon portion of the insert" + int nbMotifs; "VNTR Motif Count|Number of tandem repeat motifs within a VNTR" + string srcGene; "Source Gene|Gene from which a processed pseudogene was retrotransposed" + int nbExons; "Retrotransposed Exons|Number of exons retrotransposed (processed pseudogenes)" + string notCanonical; "Non-canonical MEI|Yes if the mobile element insertion is non-canonical" + int alleleCount; "Allele Count|Number of alternate alleles across all samples (-1 if unknown)" + int alleleNumber; "Allele Number|Total number of alleles genotyped (-1 if unknown)" + float alleleFreq; "Allele Frequency|Alternate allele frequency across all samples (-1 if unknown)" + )