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/gustafsonSv.html src/hg/makeDb/trackDb/human/gustafsonSv.html index 709136842dd..e36197bbce9 100644 --- src/hg/makeDb/trackDb/human/gustafsonSv.html +++ src/hg/makeDb/trackDb/human/gustafsonSv.html @@ -1,23 +1,25 @@ <h2>Description</h2> <p> This track shows structural variants (SVs) from Oxford Nanopore long-read whole-genome sequencing of 100 individuals in the 1000 Genomes Project, -as released by the 1000 Genomes Project ONT Sequencing Consortium and -described in Gustafson et al. 2024. The cohort spans all five 1000 -Genomes superpopulations and 19 subpopulations. Samples were sequenced -with ONT R9.4.1 pores at ~37x coverage with median read N50 of ~54 kb. +generated by the University of Washington-led 1000 Genomes Project ONT +sequencing effort and described in Gustafson et al. 2024. The cohort spans +all five 1000 Genomes superpopulations and 19 subpopulations. Samples were +sequenced with ONT R9.4.1 pores at ~37x coverage with median read N50 of +~54 kb. This is the initial 100-sample release; sequencing of the 1000 +Genomes collection is ongoing. </p> <p> The track contains 113,159 SVs (63,177 insertions, 49,700 deletions, 211 inversions, 71 duplications; byte-identical duplicate records have been removed). Each variant was called by up to five independent methods (three alignment-based: Sniffles2, cuteSV, SVIM; and assembly-based hapdiff on Flye or Shasta/Hapdup assemblies) and then merged across callers and samples with Jasmine to produce a cross-sample consensus catalog. </p> <p> This 100-sample Gustafson cohort is distinct from the Vienna 1000-Genomes-ONT release (<a href="hgTrackUi?g=lrSv1kgOnt">1KG ONT SVs</a>), which uses different samples, pore chemistry and callers; the two releases share neither samples nor calls.