Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

Nat Rev Genet. 2007 Aug;8(8):639-46. doi: 10.1038/nrg2149.


A considerable and unanticipated plasticity of the human genome, manifested as inter-individual copy number variation, has been discovered. These structural changes constitute a major source of inter-individual genetic variation that could explain variable penetrance of inherited (Mendelian and polygenic) diseases and variation in the phenotypic expression of aneuploidies and sporadic traits, and might represent a major factor in the aetiology of complex, multifactorial traits. For these reasons, an effort should be made to discover all common and rare copy number variants (CNVs) in the human population. This will also enable systematic exploration of both SNPs and CNVs in association studies to identify the genomic contributors to the common disorders and complex traits.

Publication types

  • Historical Article
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Female
  • Gene Dosage*
  • Genes, Dominant
  • Genetic Diseases, Inborn / genetics
  • Genetic Variation*
  • Genome, Human*
  • Genomics / history
  • Genotype
  • History, 20th Century
  • History, 21st Century
  • Humans
  • Male
  • Penetrance
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Trisomy