Germ-line DNA copy number variation frequencies in a large North American population

Hum Genet. 2007 Nov;122(3-4):345-53. doi: 10.1007/s00439-007-0404-5. Epub 2007 Jul 19.


Genomic copy number variation (CNV) is a recently identified form of global genetic variation in the human genome. The Affymetrix GeneChip 100 and 500 K SNP genotyping platforms were used to perform a large-scale population-based study of CNV frequency. We constructed a genomic map of 578 CNV regions, covering approximately 220 Mb (7.3%) of the human genome, identifying 183 previously unknown intervals. Copy number changes were observed to occur infrequently (<1%) in the majority (>93%) of these genomic regions, but encompass hundreds of genes and disease loci. This North American population-based map will be a useful resource for future genetic studies.

Publication types

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

MeSH terms

  • Aged
  • Chromosome Mapping
  • DNA / genetics*
  • Female
  • Gene Dosage*
  • Gene Frequency
  • Genetic Variation*
  • Genetics, Population
  • Genome, Human
  • Germ Cells / metabolism*
  • Humans
  • Male
  • Middle Aged
  • Oligonucleotide Array Sequence Analysis
  • Ontario
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide
  • Registries


  • DNA