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) diff --git src/hg/makeDb/scripts/lrSv/lrSv.as src/hg/makeDb/scripts/lrSv/lrSv.as new file mode 100644 index 00000000000..261a40aa7e0 --- /dev/null +++ src/hg/makeDb/scripts/lrSv/lrSv.as @@ -0,0 +1,22 @@ +table lrSv +"Long-read structural variants" + ( + string chrom; "Chromosome" + uint chromStart; "Start position" + uint chromEnd; "End position" + string name; "Variant ID" + uint score; "Score (quality)" + char[1] strand; "Strand" + uint thickStart; "Thick start (same as chromStart)" + uint thickEnd; "Thick end (same as chromEnd)" + uint reserved; "Item color" + string svType; "SV Type|DEL, INS, DUP, INV, or TRA" + int svLen; "SV Length|Length of the structural variant in base pairs (absolute value)" + float alleleFreq; "Allele Frequency|Fraction of samples carrying this variant" + uint sampleCount; "Sample Count|Number of samples supporting this variant" + string ciPos; "CI around Start|Confidence interval around start position" + string ciEnd; "CI around End|Confidence interval around end position" + string chr2; "Second Chromosome|Chromosome of second breakpoint (TRA only)" + string end2; "Second Position|Position of second breakpoint (TRA only)" + lstring sampleList; "Supporting Samples|Comma-separated 1-based indices of supporting samples" + )