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.
2 answers
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).
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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