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Copy number variation (abbreviated CNV) refers to a circumstance in which the number of copies of a specific segment of DNA varies among different individuals' genomes. The individual variants may be short or include thousands of bases.

CNVs can also encompass the repeating of whole genes within a genome. One example is the CYP2D6 gene, which codes for the cytochrome P450 in humans. P450 is an enzyme important in breaking down substances not produced by the body, including medications.

Similarly, population genetic analysis of SNPs and CNVs in HapMap samples showed that approximately 80% of the observed copy number differences between pairs of individuals were due to common CNVs and over 99% were inherited rather than new mutations.

Copy number variation is defined as the presence of variable numbers of copies of a particular DNA segment relative to a reference genome. Deletions and duplications result in copy number changes.

The gene copy number (also "copy number variants" or CNVs) is the number of copies of a particular gene in the genotype of an individual. Recent evidence shows that the gene copy number can be elevated in cancer cells.

Approximately two-thirds of the entire human genome may be composed of repeats and 4.8?9.5% of the human genome can be classified as copy number variations. In mammals, copy number variations play an important role in generating necessary variation in the population as well as disease phenotype.

Definition. Copy number variation (abbreviated CNV) refers to a circumstance in which the number of copies of a specific segment of DNA varies among different individuals' genomes. The individual variants may be short or include thousands of bases.

CNVs include both additional copies of sequence (duplications) and losses of genetic material (deletions). Because CNVs change the structure of the genome, such mutations, together with inversions and translocations, are collectively classified as forms of genome structural variation.

To determine copy number, a relative quantitation analysis is performed between the unknown sample and a calibrator sample (one in which the copy number of the target gene is known). The sample is combined with both assays, master mix, and then run in quadruplicate in the real-time PCR instrument.

Copy number variation, or CNV, refers to the duplication or deletion of stretches of a chromosomal region. These can be as large as megabases or smaller than 1,000 base pairs. Studies have linked copy number variation to a higher risk of developing several disorders, including autism.