Population Genetic Nature of Copy Number Variation

  • Per Sjödin
  • Mattias JakobssonEmail author
Part of the Methods in Molecular Biology book series (MIMB, volume 838)


Copy number variation has recently received considerable attention, and copy number variants (CNVs) have been shown to be both common in mammalian genomes and important for understanding genetic and phenotypic variation. As empirical knowledge and detection methods are quickly advancing, evolutionary theories about CNVs are rapidly updated and often revised. Here, we review recent progress on understanding CNVs, and we discuss some key issues for future research. In essence, we discuss four major forces in population genetics, recombination, mutation, selection, and demography, in relation to CNVs.

Key words

Copy number variation Recombination Mutation Selection Demography 



We thank M. Lascoux for helpful comment on the manuscript. This work was supported by grants from Carl Trygger’s foundation and by the Swedish Research Council Formas.


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© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  1. 1.Department of Evolutionary Biology, EBCUppsala UniversityUppsalaSweden
  2. 2.Department of Evolutionary Biology, Evolutionary Biology CenterUppsala UniversityUppsalaSweden

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