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parsed_to_cn_var should support total_copies ranges #418

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theferrit32 opened this issue May 8, 2023 · 1 comment
Open

parsed_to_cn_var should support total_copies ranges #418

theferrit32 opened this issue May 8, 2023 · 1 comment
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enhancement New feature or request priority:low Low priority

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@theferrit32
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theferrit32 commented May 8, 2023

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
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Will do this in #443

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Labels
enhancement New feature or request priority:low Low priority
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