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Old 10-01-2016, 12:42 PM   #1
Location: Switzerland

Join Date: May 2013
Posts: 20
Default Abnormaly amount of reads

I have sequenced my genome with depth 10x. When i use IGV, I can see on chromosome 5 a small sequence where it shows a very high amount of reads like over 2000 reads!!! thats crazy. Why that? My mother also has this.

What kind of SV could this be?
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Old 10-02-2016, 02:44 AM   #2
Devon Ryan
Location: Freiburg, Germany

Join Date: Jul 2011
Posts: 3,478

It could be a copy number variation, but more likely it's rRNA or some other region that's just not correct in the reference genome (i.e., it might not be a variation at all).
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