9a11061ca6b40fe16bdfd09b1af53192f6c7c85b
max
Tue Apr 21 08:13:02 2026 -0700
lrSv: add HTML doc pages and conversion scripts for recent subtracks, + hs1 HGSVC3
Subtrack stanzas for these SV callsets landed in earlier commits but
the conversion scripts and per-track HTML description pages were
never added; trackDb therefore had no doc to serve. This commit
catches up.
Docs (new):
- colorsDbSv.html CoLoRSdb 1,427-sample long-read SVs
- gustafsonSv.html 1KG ONT 100 (Gustafson 2024, PMID 39358015)
- hgsvc2Sv.html HGSVC2 (Ebert 2021, PMID 33632895)
- hprc2Sv.html HPRC release-2 pangenome SVs (no PMID yet;
see humanpangenome.org/hprc-data-release-2/)
- onekg3202Sr.html 1KG 3202 Illumina SHORT-READ GATK-SV
(Byrska-Bishop 2022, PMID 36055201)
Scripts (new):
- lrSvGustafson.as / lrSvGustafsonVcfToBed.py
- lrSvHgsvc2.as / lrSvHgsvc2TsvToBed.py (merges insdel + inv tables)
- lrSvHprc2.as / lrSvHprc2VcfToBed.py (streams wave-decomposed VCF,
explodes multi-allelic rows,
filters to SV-sized or INV)
- lrSv1kg3202Sr.as / lrSv1kg3202SrVcfToBed.py
HGSVC3 also on hs1:
- hgsvc3Sv.html: note that the hs1 build is native (not lifted):
HGSVC3 aligned all assemblies to both GRCh38 and T2T-CHM13 and
released separate annotation tables per reference. Added the
T2T-CHM13 source URL to the Methods section and the hs1 hgsvc3.bb
download link to Data Access.
- doc/hs1/lrSv.txt (new): hs1-specific wget + build steps; refers
back to doc/hg38/lrSv.txt for the full process.
refs #36258
Co-Authored-By: Claude Opus 4.7 (1M context)
+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.
+
+The track contains 113,696 SVs (63,177 insertions, 49,704 deletions,
+744 inversions, 71 duplications). 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.
+
+This 100-sample Gustafson cohort is distinct from the Vienna
+1000-Genomes-ONT release (1KG ONT SVs),
+which uses different samples, pore chemistry and callers; the two
+releases share neither samples nor calls.
+
+Items are colored by SV type:
+Description
+Display Conventions and Configuration
+
+
+
+Insertions are placed at the insertion site with a width of 1 bp; deletions, +duplications and inversions span the affected reference interval. Filters +are available for SV type, SV length and carrier-sample count. The detail +page also shows the number of per-caller calls supporting each site +(VARCALLS) and whether the source caller marked the breakpoints as precise. +
+ ++Long-read whole-genome sequencing was performed on 100 1000 Genomes +samples with ONT R9.4.1 pores at a median coverage of ~37x and read N50 +of ~54 kb. Reads were aligned to GRCh38 with minimap2 and, for a subset, +with the CARD pipeline. De novo assemblies were produced with Flye and +with Shasta/Hapdup. Per-sample structural variant calls were generated +with five independent methods (Sniffles2, cuteSV, SVIM on alignments; +hapdiff on Flye and on Shasta/Hapdup assemblies) and merged across +callers with Jasmine in two stages: first within each sample +(intra-sample) to build per-sample consensus SVs, then across all 100 +samples to produce the shared site-level callset used here. +
+ ++The data can be explored interactively in table format with the +Table Browser or the +Data Integrator, and accessed +programmatically through our API, +track=gustafsonSv. +
++The bigBed is available from +our +download server as gustafson.bb. Example: +bigBedToBed http://hgdownload.soe.ucsc.edu/gbdb/hg38/lrSv/gustafson.bb -chrom=chr21 -start=0 -end=100000000 stdout. +
++The original VCF is available from the 1000 Genomes ONT S3 bucket: + +20240423_jasmine_intrasample_noBND_custom_suppvec_alphanumeric_header_JASMINE.vcf.gz. +
+ ++Thanks to Gustafson and colleagues and the 1000 Genomes Project ONT +Sequencing Consortium for releasing this dataset. +
+ ++Gustafson JA, Gibson SB, Damaraju N, Zalusky MPG, Hoekzema K, Twesigomwe D, Yang L, Snead AA, +Richmond PA, De Coster W et al. + +High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive +catalog of human genetic variation. +Genome Res. 2024 Nov 20;34(11):2061-2073. +PMID: 39358015; PMC: PMC11610458 +
+