Bibliography on copy number variations (glossary)

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  • balanced variant : genomic variant that involves no net loss or gain of genetic material, such as inversions and translocations.

  • comparative genome hybridization (CGH):

  • copy number alteration (CNA):

  • copy number polymorphism (CNP):

  • copy number variation (CNV):

  • multiplex amplifiable probe hybridization (MAPH) :

  • loss of heterozygosity (LOH) :

  • representational oligonucleotide microarray analysis (ROMA) :

  • segmental duplication: segments of chromosome DNA (> 1kb) that are present in multiple copies (with >90% sequence identity). These are thought to have arisen over the past 35 million years of primate evolution.

  • unbalanced rearrangement: genomic variant that involves gain and loss of DNA, such as deletion and duplication.