Question: Can PennCNV differentiate homozygous and heterozygous CNV calls?

[vikrantsingh1]

Hello! Currently we are performing CNV analysis using PennCNV and wondering if can determine that CNV calls are homozygous and heterozygous? i.e., if we have a deletion/duplication on one chromosome only or on both chromosomes?
Many thanks,
Vikrant

[kaichop]

homozygous and heterozygous are different states. For deletions, cn=0 means homozygous, and cn=1 means heterozygous.

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On Thu, Oct 20, 2022 at 11:00 PM Vikrant Singh ***@***.***> wrote: Hello! Currently we are performing CNV analysis using PennCNV and wondering if can determine that CNV calls are homozygous and heterozygous? i.e., if we have a deletion/duplication on one chromosome only or on both chromosomes? Many thanks, Vikrant — Reply to this email directly, view it on GitHub <#95>, or unsubscribe <https://github.com/notifications/unsubscribe-auth/ABNG3OCKSUTC6BO6HLSEROLWEIBNNANCNFSM6AAAAAARKXWYBA> . You are receiving this because you are subscribed to this thread.Message ID: ***@***.***>

[vikrantsingh1]

Thank you so much the prompt reply.