While single nucleotide polymorphisms (SNPs) are typically the variant of choice for population genetics, copy number variations (CNVs) which comprise insertions, deletions and duplications of genomic sequences, is also an informative type of genetic variation. CNVs have been shown to be both common in mammals and important for understanding the relationship between genotype and phenotype. Moreover, population-specific CNVs are candidate regions under selection and are potentially responsible for diverse phenotypes.
Keywords: Copy number variation; Genetic diversity; Population genetics; Positive selection.