Abstract
Copy number variation (CNV) is defined as losses or gains of a DNA fragment between one kilobase to several megabases and contributes to the pathogenesis of multiple genetic disorders. CNV detection has relied on G-banding for large CNVs, array comparative genomic hybridization (aCGH) for genome-wide CNV detection, and Multiplex Ligation-dependent Probe Amplification (MLPA) and fluorescent in situ hybridization (FISH) for identification of CNVs in specific targeted areas. Clinical …
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