A copy number variation map of the human genome

Nat Rev Genet. 2015 Mar;16(3):172-83. doi: 10.1038/nrg3871. Epub 2015 Feb 3.


A major contribution to the genome variability among individuals comes from deletions and duplications - collectively termed copy number variations (CNVs) - which alter the diploid status of DNA. These alterations may have no phenotypic effect, account for adaptive traits or can underlie disease. We have compiled published high-quality data on healthy individuals of various ethnicities to construct an updated CNV map of the human genome. Depending on the level of stringency of the map, we estimated that 4.8-9.5% of the genome contributes to CNV and found approximately 100 genes that can be completely deleted without producing apparent phenotypic consequences. This map will aid the interpretation of new CNV findings for both clinical and research applications.

Publication types

  • Review

MeSH terms

  • Chromosome Mapping*
  • DNA / genetics
  • DNA Copy Number Variations*
  • Gene Deletion
  • Gene Duplication
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Genome, Human*
  • Genotype
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Oligonucleotide Array Sequence Analysis
  • Phenotype


  • DNA