ef61e73fc416622d8557ec2439df2344a1cc80c3 max Tue Jun 9 15:10:01 2026 -0700 lrSv: replace HPRC v2.0 pangenome SV track with v2.1 (hprc2v21Sv) Drop the v2.0 wave-decomposed hprc2Sv track and add hprc2v21Sv built from the HPRC v2.1 minigraph-cactus raw vg deconstruct VCFs (gref95.ro), on both hg38 (GRCh38 path, 596,063 SVs) and hs1 (T2T-CHM13 path, 608,435 SVs). The v2.1 files lack per-allele TYPE/LEN, so the new converter classifies INS/DEL by parsimony-trimming REF/ALT and the net length change. The v2.0 build recipe, converter and schema are kept but commented out in the makeDocs in case wave-decomposed VCFs are released again, refs #36258 diff --git src/hg/makeDb/trackDb/human/lrSv.html src/hg/makeDb/trackDb/human/lrSv.html index c9c68e0f0a9..7d5560c1eac 100644 --- src/hg/makeDb/trackDb/human/lrSv.html +++ src/hg/makeDb/trackDb/human/lrSv.html @@ -127,39 +127,39 @@ 186 809,711 deCODE 3,622 3,622 Icelandic general population No ~17x ONT 133,886 0 127 861,080 - HPRC v2 + HPRC v2.1 233 HPRC release-2 pangenome (CHM13 + diverse 1KG assemblies) No ~60x HiFi + ~30x ONT (pangenome graph) - 1,483,114 + 596,063 50 - 280 - 97,718 + 276 + 1,064,897 HGSVC2 32 HGSVC2 haplotype-resolved assemblies (5 superpopulations) No >40x PacBio CLR + >20x HiFi (+ Strand-seq) 111,746 50 168 57,207,414 HGSVC3 65 @@ -284,37 +284,37 @@ replicated SVs (deletions, insertions, duplications, inversions) called with pbsv and merged with JASMINE. The matched GA4K small-variant callset (SNVs and short indels) lives alongside other population allele-frequency resources as GA4K 552 PacBio LR in the Variant Frequencies track collection.

deCODE 3,622 SVs

High-confidence structural variants from 3,622 Icelanders (deCODE genetics), sequenced with Oxford Nanopore long reads. ~134k SVs (deletions, insertions and combined insertion/deletion events). Site-only callset with annotated surrounding tandem-repeat regions.

-

HPRC v2 SVs

+

HPRC v2.1 SVs

Structural variants derived from the Human Pangenome Reference Consortium -release-2 minigraph-cactus pangenome graph, built from 233 PacBio HiFi +release-2.1 minigraph-cactus pangenome graph, built from 233 PacBio HiFi haplotype-resolved assemblies (CHM13 + diverse 1000 Genomes samples). -~1.5M SV-sized alleles (INS, DEL, COMPLEX, INV) extracted with -vg deconstruct and decomposed with vcfwave (WFA2). +About 596k SV-sized alleles (insertions and deletions) extracted from the +graph with vg deconstruct.

HGSVC2 32 SVs

Structural variants from 32 haplotype-resolved diploid genomes (HGSVC2 freeze 4, Ebert et al. 2021). ~112k SVs (deletions, insertions and inversions) called from phased de novo assemblies with PAV, with per-variant 1000 Genomes population allele frequencies (insertions and deletions) and rich structural/gene annotations. An earlier HGSVC release complementary to HGSVC3.

HGSVC3 65 SVs

Structural variants from 65 diverse individuals sequenced and de novo