Germ-line DNA copy number variation frequencies in a large North American population.
Hum Genet
; 122(3-4): 345-53, 2007 Nov.
Article
em En
| MEDLINE
| ID: mdl-17638019
ABSTRACT
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Variação Genética
/
DNA
/
Dosagem de Genes
/
Células Germinativas
Limite:
Aged
/
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
America do norte
Idioma:
En
Revista:
Hum Genet
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
Canadá