Hi!
I am working on a project regarding copy number variations and I would appreciate if someone can explain clearly how to define homozygous deletions (duplications) and heterozygous deletions (duplications) when it comes to copy number variations (and not SNPs)? What are other statuses that can happen?
If we have a diploid organism, in my understanding this would be copy number statuses: total copy number = 2 -> neutral total copy number < 2 -> deletion total copy number > 2 -> duplication
However, how to define homozygous deletions (duplications) and heterozygous deletions (duplications)?
Would this be a proper solution?
A B status
0 0 homozygous deletion
1 0 heterozygous deletion
1 1 neutral
2 0 LOH
1 2 heterozygous duplication
2 2 homozygous duplication
Thank you!
I'd call LOH copy-neutral LOH (CN-LOH) since an heterozygous deletion creates an LOH too. I agree with your definitions of heterozygous and homozygous deletions and have never seen homozygous and heterozygous applied to duplications. >2n for me are gains and define them as 3n, 4n, 5n, 6n...
Thank you a lot for your reply, now it seems clearer for me.