Copy number variant

Copy number variant or CNV is a phenomenon where sections of the genome are repeated and the number of repeats in the genome varies between individuals in the human population. CNVs are a type of structural variation (SV), specifically, they are a type of duplication or deletion event that affects a considerable number of base pairs.

Overview

Copy number variants (CNVs) are a form of structural variation in the genome. They are defined as segments of DNA, typically greater than one kilobase, that vary in copy number compared to a reference genome. CNVs can include both duplications and deletions of genomic sequence. They are a common form of genetic variation and are believed to play a significant role in human evolution, health, and disease.

Role in Disease

CNVs have been associated with a variety of diseases, including autism, schizophrenia, autoimmune disorders, and cancer. They can affect gene dosage, disrupt coding sequences, or alter gene regulation, and are therefore capable of causing significant phenotypic variation.

Detection

Several methods exist for the detection of CNVs, including comparative genomic hybridization (CGH), single nucleotide polymorphism (SNP) arrays, and next-generation sequencing (NGS). Each of these methods has its own strengths and weaknesses, and the choice of method often depends on the specific goals of the study.

Research

Research into CNVs is ongoing, with many studies aiming to better understand their role in disease and their potential as therapeutic targets. The Database of Genomic Variants (DGV) is a publicly accessible database that provides a comprehensive summary of genomic variation data.

See Also

• Genetic variation
• Structural variation
• Genome
• Comparative genomic hybridization
• Single nucleotide polymorphism
• Database of Genomic Variants

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