Structural Variant
Catalog entries using this tag (links open the entry card on its page):
- All of Us — Population-scale long-read sequencing — Projects
- gnomAD v2.1.1 / v3.1 — Updated resources — Projects
- UK Biobank — WES-derived CNV analysis — Projects
- UK Biobank — WGS-derived CNV PheWAS — Projects
Entries
All of Us — Population-scale long-read sequencing
PUBMED_LINK
STAGE_PERIOD
2025
DESCRIPTION
Population-scale long-read whole-genome sequencing in the All of Us cohort, enabling comprehensive detection of structural variants, repeat expansions, and complex genomic regions not accessible with short-read sequencing.
URL
TITLE
Population-scale Long-read Sequencing in the All of Us Research Program
gnomAD v2.1.1 / v3.1 — Updated resources
STAGE_PERIOD
2021–2022
DESCRIPTION
gnomAD v2.1.1 updated the exome dataset with improved QC and additional samples. v3.1 updated the genome dataset with new call sets and expanded to include structural variant (SV) calls. Introduced comprehensive SV resource across 14,891 genomes, revealing thousands of previously uncharacterized structural variants.
URL
UK Biobank — WES-derived CNV analysis
PUBMED_LINK
STAGE_PERIOD
2024
DESCRIPTION
Protein-altering CNV analysis from WES data in 468,570 participants. CNV-pQTL validation and phenome-wide associations covering 41 quantitative traits.
URL
TITLE
Protein-altering variants at copy number-variable regions influence diverse human phenotypes
UK Biobank — WGS-derived CNV PheWAS
PUBMED_LINK
STAGE_PERIOD
2023.11
DESCRIPTION
Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes, including CNV-pQTL and phenome-wide associations.
URL
TITLE
Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes