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WGLab / PennCNV

Copy number vaiation detection from SNP arrays
http://penncnv.openbioinformatics.org
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Question: Can PennCNV differentiate homozygous and heterozygous CNV calls? #95

Closed vikrantsingh1 closed 2 years ago

vikrantsingh1 commented 2 years ago

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 commented 2 years ago

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

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

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vikrantsingh1 commented 2 years ago

Thank you so much the prompt reply.