This project presents a curated collection of rare copy number variants (CNVs), assembled by Alexandra Valeanu and Friederike Ehrhart as part of a PhD project at Maastricht University, The Netherlands.

The goal is to centralise and integrate information that links CNV regions to associated diseases, affected genes, and biological pathways, addressing a gap between genomic variation and functional impact.

Ultimately, this structured data (CNV → Diseases → Genes → Pathways) will support the development of knowledge graphs to advance understanding of the mechanisms underlying CNV associated diseases.

Contributors

Funding

This research is supported by ERDERA (European Rare Disease Research Alliance) and the European Union under grant agreement 101156595.