Copy Number Variation

Copy number variants (CNVs) are the most prominent type of the variation generated by genomic rearrangements, known as structural variation (SV). CNVs are homologous DNA sequences present in different amount in individuals that belong to the same species. Due to the large amount of copy number variation (CNV) events described in the different life domains it can be inferred that such events occur in the genome of any species. CNVs are generated by both recurrent and non-recurrent genomic rearrangements. The former occur by the mechanism of non-allelic homologous recombination (NAHR). The latter can be produced by different mechanisms including non-homologous end joining and perturbations of DNA replication, among others. CNVs have great impact on fundamental biological processes including evolution, and adaptation to environmental conditions. Of great relevance is the impact of CNVs in human health, either as predisposing or as causal agents of disease conditions, in particular developmental disorders, mental illness and cancer.