hCNV Reference Resources

Data & tools for hCNV analysis with a focus on the distributed normal

The site was started as a project of the ELIXIR hCNV Community at the Biohackathon Europe 2023:

A "batteries-included" open reference resource for human genomic copy number variants (CNV)

Main goals at the Biohackathon event were the identification of the best data formats, how to deploy a tailored Beacon solution as well as the selection of a data model for representing genomic variations and associated metadata.