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) derived from the Human Pangenome
+Reference Consortium (HPRC) release-2 pangenome graph. The graph was built
+with minigraph-cactus from PacBio HiFi haplotype-resolved assemblies of 233
+samples (including T2T-CHM13 and the diverse 1000 Genomes Project sample
+set), aligned to the GRCh38 reference path. Variants were extracted from
+the graph with vg deconstruct and decomposed into atomic alleles
+with vcfwave (WFA2-lib).
+
+The track contains 1,483,114 SV-sized alleles (length ≥ 50 bp) split by
+type: 1,106,190 insertions, 192,597 deletions, 178,178 complex alleles and
+6,149 inversions. Each row carries the allele count, allele frequency,
+number of samples with data and the snarl-nesting level of the variant in
+the pangenome decomposition tree.
+
+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, +complex alleles and inversions span the affected reference interval. +Filters are available for SV type, SV length, allele frequency and snarl +level (0 = top-level bubble; higher values are nested within parent +bubbles). +
+ ++The HPRC v2.0 minigraph-cactus pangenome was downloaded as +hprc-v2.0-mc-grch38.sv.gfa.gz (the graph) and +hprc-v2.0-mc-grch38.wave.vcf.gz (the corresponding +wave-decomposed VCF) from the HPRC S3 release bucket. The VCF is the +result of running vg deconstruct on the graph with GRCh38 as the +reference path and then vcfwave / WFA2-lib to split complex +multi-allelic records into atomic alleles with per-allele TYPE and LEN +fields. +
++For display here, the wave VCF was streamed and each ALT was emitted as +its own BED row. Alleles were retained if their absolute length was +≥ 50 bp or if the record carried the INV flag (inversions may +be shorter). Allele counts, frequencies, and sample counts are taken +directly from the per-allele INFO fields. +
++The list of assemblies underlying the pangenome is documented at +human-pangenomics/hprc_intermediate_assembly +alignments_v2.0.csv. +
+ ++The data can be explored interactively in table format with the +Table Browser or the +Data Integrator, and accessed +programmatically through our API, +track=hprc2Sv. +
++The bigBed is available from +our +download server as hprc2.bb. Example: +bigBedToBed http://hgdownload.soe.ucsc.edu/gbdb/hg38/lrSv/hprc2.bb -chrom=chr21 -start=0 -end=100000000 stdout. +
++The original pangenome graph and the wave-decomposed VCF are available +from the HPRC public S3 bucket, as linked from the +HPRC +release-2 announcement. +
+ ++Thanks to the Human Pangenome Reference Consortium for building and +publicly releasing the release-2 minigraph-cactus pangenome. +
+ ++HPRC release-2 data is not yet described in a formal peer-reviewed +publication. See the Human Pangenome Project release announcement +for background and data-access details: + +HPRC data release 2. +