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cancervariants / variation-normalization

Services and guidelines for normalizing variants
https://normalize.cancervariants.org/variation/
MIT License
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parsed_to_cn_var should support total_copies ranges #418

Open theferrit32 opened 1 year ago

theferrit32 commented 1 year ago

This accounts for a pretty small number of variations in ClinVar, but there are some. I think there are 14, all with only 1 submission.

One example: https://www.ncbi.nlm.nih.gov/clinvar/variation/1048551/

https://vrs.ga4gh.org/en/stable/terms_and_model.html#copynumbercount

The arguments we would use for the above would be:

{
    "assembly": "GRCh37",
    "chr": "10",
    "start": 131243689,
    "end": 132131959,
    "total_copies": [3, 4]
}
korikuzma commented 1 year ago

Will do this in #443