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 @@ 33 101,381 Han 945 945 Han Chinese, general population No ~17x ONT 111,288 1 254 99,744 - 1KG ONT 100 + 1KG ONT UW 100 - 1000 Genomes, 5 superpopulations / 19 subpopulations + 1000 Genomes, 5 superpopulations / 19 subpopulations (University of Washington ONT effort) No ~37x ONT (R9.4.1) 113,159 1 167 98,290 1KG ONT Vienna 1,019 1000 Genomes, diverse No ~17x ONT 148,375 2 @@ -237,48 +237,48 @@

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.

Han 945 SVs

Structural variants from 945 Han Chinese individuals. ~111k SVs (deletions, insertions, duplications, inversions, translocations) merged with SURVIVOR. Includes allele frequencies and per-sample support.

-

1KG ONT 100 SVs

+

1KG ONT UW SVs

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.

1KG ONT Vienna SVs

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.

ToMMo Japanese SVs

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.

AoU 1K SVs

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.