calculating the allele frequency of a gene deletion and duplication
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22 months ago
curious ▴ 810

Lets say I have copy number data for a gene for 9106 people

Copy Number 2 8260 Copy Number 1 603 Copy Number 3 226 Copy Number 0 17

I am trying to figure out the allele frequency of the deletion and duplication.

I am not really sure how to proceed other than there are 9106 x 2 = 18,212 haplotypes.

my best guess is that the:

deletion is ((2 * 17) + 603) / 18,212) = .035 duplication is 226 / 18,212 = .012

Is that right or off the mark?

cnv • 584 views
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I do think so. ChrX and chrY are of course different.

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