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  • 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?

    thanks

  • #2
    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:
    http://seqanswers.com/forums/showpos...87&postcount=4

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