Downloading list of known pathogenic non-coding CNVs
1 answer
The term 'pathogenic' immediately makes me think of ClinVar. The ClinVarMiner resource at UU is pretty browsable for individual conditions; and you can click through the structural variants to the direct ClinVar records:
https://www.ncbi.nlm.nih.gov/clinvar/RCV000208719/
You can also pull variants directly out of the ClinVar VCF, available here:
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