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Definition

Most genes in the human genome have two copies, due to structural variation this can be altered.

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

Last updated on 31st May, 2019