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 Gustafson et al. 2024. ~114k SVs (insertions, deletions, duplications, -inversions) called with five callers and merged with Jasmine. This is a -separate dataset from the Vienna 1KG-ONT release below; the 100 samples -here do not overlap with the 1,019 samples in the Vienna release. +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. -This is a separate dataset from the 1KG ONT 100 (Gustafson et al.) track above; -the 1,019 samples here do not overlap with the 100 samples in that release. +Two samples (HG03499 and HG03548) overlap with the 1KG ONT 100 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.