Question in Database of Genomic variants
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Entering edit mode
9.3 years ago
mangfu100 ▴ 800

Hello all.

I have one questions about database of genomic variants(DGV).

When I enter site of DGV, it seems like all reported variants are focused on copy number variants.

Is it right? DGV is specialized in only CNV ?

and one more question.

While entering sites below,

http://dgv.tcag.ca/dgv/app/downloads?ref=GRCh37/hg19

I found that two categorizes that can be downloaded.

one categorize is DGV variants file and the other is support variants file.

While I already read manual about them but I can't understand what kind of different both of them have.

I very appreciate if you could tell me difference between them.

alignment next-gen sequence • 2.7k views
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Entering edit mode
9.3 years ago
Robert Sicko ▴ 630

The supporting variants are sample level variants. Per study, multiple sample level variants with slightly different breakpoints can be merged if they share 70% reciprocal overlap. See the DGV FAQ for more information (question #11).

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Entering edit mode
9.3 years ago

The description of the variant types is right there in the title:

A curated catalogue of human genomic structural variation

They're collecting SV/CNV events, not SNV/Indels.

The difference between the variant tracks is also not clear to me.

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