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clarissaboschi 05-13-2015 08:54 AM

CNV annotation tool
Dear all,

I detected CNVs with CNVnator tool from seq-data and after I identified the CNV regions with CNVruler. Now I need to annotate these regions.

Which tool I can use for it? I know that I can use bedtools or R (overlap), but is there any tool that I can use?


lgmSeq 07-09-2018 10:20 PM

AnnotSV: An integrated tool for Structural Variations (SV) annotation
I suggest using AnnotSV for SV/CNV annotation (with OMIM, DGV, 1000g, haploinsufficiency, TAD, ... and also with your own in-house information).

You can look at the following post describing the annotSV tool:

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