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!