Clinical interpretation of copy number variants in the human genome

J Appl Genet. 2017 Nov;58(4):449-457. doi: 10.1007/s13353-017-0407-4. Epub 2017 Sep 30.


Molecular methods, by which copy number variants (CNVs) detection is available, have been gradually introduced into routine diagnostics over the last 15 years. Despite this, some CNVs continue to be a huge challenge when it comes to clinical interpretation. CNVs are an important source of normal and pathogenic variants, but, in many cases, their impact on human health depends on factors that are not yet known. Therefore, perception of their clinical consequences can change over time, as our knowledge grows. This review summarises guidelines that facilitate correct classification of identified changes and discusses difficulties with the interpretation of rare, small CNVs.

Keywords: CNV interpretation; Copy number variants; Genotype–phenotype correlations; Susceptibility loci; VOUS.

Publication types

  • Review

MeSH terms

  • DNA Copy Number Variations / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Genome, Human / genetics*
  • Humans