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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Copy number variation findings among 50 children and adolescents with autism spectrum disorder

Hanne S Sorte1, Elen Gjevik, Eili Sponheim

  • 1Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.

Psychiatric Genetics
|January 2, 2013
PubMed
Abstract

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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