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Genotyping single nucleotide polymorphisms, or SNPs, using TaqMan Assays has been very well established. But have you heard about copy number variations? Copy number variation (CNV) is a type of structural variation that occurs when a DNA segment of 1 kb to several megabases in length is present in variable copy numbers compared to a reference genome. These CNVs can influence gene expression and can be associated with specific phenotypes and diseases. This variation covers approximately 12% of the human genome and includes deletions and duplications. TaqMan Copy Number assays offer a targeted approach combining high accuracy, specificity, ease of use and sample throughput, to validate copy number changes or screen large sample sets. So how does this all work? Lets take a look at our lab book TaqMan Copy Number assays are a duplex experiment using a FAM labeled target assay and a VIC labeled reference assay in the same well to quantify small fold changes. The reference assay targets a
