Journal of Clinical Genomics

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About Copy number variation (CNV) detection

Copy number variation (CNV) is a common source of genetic variation which is implicated in many genomic disorders. CNV is a form of structural variation (SV) in the genome. Usually, CNV refers to the duplication or deletion of DNA segments larger than 1 kbp. Genome-wide CNV detection is now possible using high-throughput, low-cost next generation sequencing (NGS) methods.

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