Structural variant database

Question

[Ali]

I’m looking for public databases that catalogue pathogenic small to intermediate structural variants (e.g., small DEL/INS/DUP/INV, MEIs) and provide:

• Pathogenicity/clinical significance (or evidence to assess it), and
  • The detection method / platform (e.g., NGS, read-depth, array, etc.).

ClinVar is helpful but seems sparse for many smaller SVs. I’d appreciate pointers to resources that better cover this size range and include method metadata.

Answer 1

[Pierre Lindenbaum]

https://www.deciphergenomics.org/disorders/syndromes/list

This is a list of expert-curated microdeletion and microduplication syndromes involved in developmental disorders. These pages provide expert-reviewed clinical synopses of the syndromes, the size and nature of deletions or duplications, lists of genes contained within these aberrations, literature references, and links to appropriate support groups.

[Ali]

thank you very much, but I need more genome-wide data even if not so well curated