Phenome-Wide Association of Multiallelic Copy Number Variation in UK Biobank

422,170 UK Biobank individuals were analyzed for multi-allelic copy number variation (mCNV) associations with disease. The study robustly typed 69 mCNVs from whole exome sequences across discovery and replication sets, identifying 173 mCNV-phenotype associations. This dataset, authored by Ed Hollox and last updated in May 2026, contains the results of this PheWAS analysis.

Use Cases

• Identify novel genetic loci for disease based on multi-allelic copy number variation
• Validate PheWAS associations using independent replication cohorts
• Investigate ancestry-specific genetic effects on clinically-curated composite phenotypes

Strengths

• Analysis includes 422,170 individuals from the UK Biobank
• 173 mCNV-phenotype associations were detected from 26 mCNVs, with 114 associations replicating
• Phenotypes were clinically-curated composites integrating self-report and healthcare data

Limitations

• Column-level documentation is absent; field semantics must be inferred after download
• Row count is unknown, which may limit suitability assessment

Provenance

Source

UK Biobank whole exome sequences

Collection Method

Robust typing of 69 mCNVs from sequencing data, followed by PheWAS analysis.

Freshness

Last updated 2026-05-12 08:42:12

Geography

United Kingdom; individuals of African, European, and Central/South Asian ancestries.