Can a genome sequence with 50 bp found in multiple copies be classified as a copy number variant (CNV)?

19 November 2024 1 4K Report

My question is:

Can this 50 bp sequence with varying copy numbers across individuals be considered a copy number variant (CNV)?

Are there cases where CNVs smaller than the commonly defined range (few thousand bp to millions) are recognized or categorized differently?

I would appreciate insights from those experienced in genomic structural variation and CNV analysis. Thank you!

Loubna Youssar

I dont think so, CNV are large, and their impact is usually enorme. Insertions of 50 bp are considered as indels, and their repetition would not be classified as CNV. It would be like microsatellite, transposons or ancestral virus in our genome.

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