Copy number variant (CNV)

Copy number variant (CNV)

A CNV is a form of structural variation of the genome that results in a change in the number of copies of one or more sections of DNA.

CNVs range from about one kilobase (1000 nucleotide bases) to several megabases in size and can encompass a region containing only a fragment of a gene or a contiguous set of adjacent genes.

The human genome contains both gains and losses of genetic material between different individuals. Although many CNVs are stable and heritable, de novo CNVs arise through a number of mechanisms at various stages of development.

CNVs can increase or decrease the number of dosage-sensitive genes, leading to human phenotypic variability, complex behavioral traits, disease susceptibility, and highly penetrant diseases.


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