3870b9e5e1b3fc67b0638fa77f6644bf5f133c9f max Mon Jul 20 10:52:55 2026 -0700 lrSv: relabel lrSv1kLin and gustafsonSv, write lrSv1kLin description Per Eichler lab request: relabel lrSv1kLin to 'Structural Variants from 1218 1KG individuals (HiFi, ONT & assembly)' and write its description page (drawn from HPRC year 2, HGSVC3, Vienna 1KG-ONT and UW 1KG-ONT). Relabel gustafsonSv as the University of Washington 1KG-ONT effort. Track names unchanged; no data rebuilt, counts kept honest at the current 100-sample Gustafson data. refs #36258 diff --git src/hg/makeDb/trackDb/human/lrSv.html src/hg/makeDb/trackDb/human/lrSv.html index 9110e43be88..6621e40f46a 100644 --- src/hg/makeDb/trackDb/human/lrSv.html +++ src/hg/makeDb/trackDb/human/lrSv.html @@ -61,33 +61,33 @@
Structural variants from the Consortium of Long-Read Sequencing database (CoLoRSdb), from 1,427 PacBio HiFi long-read whole-genome sequences. ~426k SVs (insertions, deletions, inversions) called with pbsv and merged with Jasmine, with allele frequencies, genotype counts and Hardy-Weinberg statistics across the cohort.
Structural variants from 945 Han Chinese individuals. ~111k SVs (deletions, insertions, duplications, inversions, translocations) merged with SURVIVOR. Includes allele frequencies and per-sample support.
-Structural variants from Oxford Nanopore long-read sequencing of 100 -1000 Genomes samples (5 superpopulations, 19 subpopulations) released -by the 1000 Genomes ONT Sequencing Consortium and described in +1000 Genomes samples (5 superpopulations, 19 subpopulations) from the +University of Washington-led 1000 Genomes ONT sequencing effort, described in Gustafson et al. 2024. ~114k SVs (insertions, deletions, duplications, inversions) called with five callers and merged with Jasmine. This is mostly a separate dataset from the Vienna 1KG-ONT release described next (directly below); only two samples (HG03499 and HG03548) overlap.
Structural variants from 1,019 individuals across 26 populations (1000 Genomes ONT). ~161k SVs annotated with SVAN, classifying insertions and deletions by mechanism of origin (mobile elements, VNTRs, processed pseudogenes, etc.). Original coordinates are on T2T-CHM13 (hs1); the hg38 version was created via liftOver. -Two samples (HG03499 and HG03548) overlap with the 1KG ONT 100 dataset. +Two samples (HG03499 and HG03548) overlap with the 1KG ONT UW dataset.
Structural variants from 333 Japanese individuals (111 trios) from the Tohoku Medical Megabank (ToMMo). ~74k SVs (deletions and insertions) with trio-based Mendelian error rates and allele frequencies.
Structural variants from 1,027 individuals from the All of Us (AoU) Research Program, sequenced with PacBio HiFi long reads. AoU is a deeply phenotyped biobank that includes participants with a range of conditions (e.g. diabetes, hearing loss, hypertension), so the cohort is not disease-free.