This page contains available bulk data downloads provided by AstraZeneca's Centre for Genomics Research to support the centre's publications.
By downloading any of the datasets provided on this page, you confirm you have read, understood, and agree to be bound by the LICENSE Agreement.
These data are summary statistics. Whilst considerable effort has been taken to prevent the possibility of re-identification of participants, users are bound by obligations to not attempt to re-identify participants.
This research has been conducted using the UK Biobank Resource under application number 26041, 52293, 65851 and 68601.
We evaluated the role of CNVs in human phenotypes and diseases by analysing copy number variants (CNVs) from 470,727 UK Biobank whole-genome sequences (WGS) and conducting variant- and gene-level PheWAS with 2,941 plasma protein abundances, 13,336 binary clinical phenotypes and 1,911 quantitative traits. Only CNVs identified in at least 3 samples were included in the variant-level analysis. All genomic coordinates are based on GRCh38.
Citation: If you use these results in your work, please cite: Zou et al. Copy number variants contribute to a spectrum of human phenotypes in 470,727 UK Biobank genomes.