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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.

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.

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.

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.

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.

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.

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.

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.