Today, we are thrilled to announce the release of genome-wide structural variants (SVs) for 63,046 unrelated samples with genome sequencing…
Posts by Michael Talkowski
News
The news page highlights new features, versions, or other major announcements. See our changelog for all changes to gnomAD, including minor ones.
Rare coding CNVs from exome sequenced individuals in gnomAD v4
As a part of gnomAD V4, we are excited to include our first gnomAD release of rare (<1% overall site frequency) autosomal coding copy number variants (CNVs) from exome-sequencing (ES) in 464,297 individuals. These data are available to explore in the user-friendly gnomAD browser (https://gnomad.broadinstitute.org/), while the complete annotated rare CNV callset can be downloaded directly from the downloads page.