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A type of genomic variant that arises as a result of a duplication or deletion of a region of DNA.

Use in clinical context

Copy number variants can result in too much or too little of a protein being produced. Tumour cells often have structural variants that result in copy number variants. Individuals with other disorders such as epilepsy can also have copy number variants of genes associated with the disorder.

Related terms

Cell | Gene | Genome | Structural variants | Variant

Last updated on 20th May, 2020