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CNV variants are not visible in the gnomAD SV (v4) UI #1635

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shaytzur2 opened this issue Sep 29, 2024 · 1 comment
Open

CNV variants are not visible in the gnomAD SV (v4) UI #1635

shaytzur2 opened this issue Sep 29, 2024 · 1 comment
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@shaytzur2
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In the GnomAD SV v4 VCF database, there are several hundred MCNV variants, such as these genetic changes:
gnomAD-SV_v3_CNV_chr1_6ac33f3e and gnomAD-SV_v3_CNV_chr1_ddb7b65a.
However, these type of variants are currently not available to view on the website.

@rileyhgrant
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Hi @shaytzur2,

Thanks for filing this issue. We've added this to our backlog, as it appears as though there is a workaround you have for time being (the workaround being view the VCF files). Our group member who is likely to work on this probably won't be able to get to this until some time next month.

Thanks again for bringing this to our attention, and for your understanding. Feel free to comment here again at any point with any concerns or questions.

Best,

Riley

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