Germ-line DNA copy number variation frequencies in a large North American population.
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.
Zogopoulos
George
G
Sam Minuk Cancer Genetics and Biomarker Laboratories, Fred Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Toronto, Canada.
Ha
Kevin C H
KC
Naqib
Faisal
F
Moore
Sara
S
Kim
Hyeja
H
Montpetit
Alexandre
A
Robidoux
Frederick
F
Laflamme
Philippe
P
Cotterchio
Michelle
M
Greenwood
Celia
C
Scherer
Stephen W
SW
Zanke
Brent
B
Hudson
Thomas J
TJ
Bader
Gary D
GD
Gallinger
Steven
S
D000368:Aged; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics*; D005260:Female; D018628:Gene Dosage; D005787:Gene Frequency; D014644:Genetic Variation; D005828:Genetics, Population; D015894:Genome, Human; D005854:Germ Cells / Q000378:metabolism*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis; D009864:Ontario; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012042:Registries
D004247:DNA