A region of DNA (>=1kb) that has a variable copy number
99% of CNVs are inherited. Of these: 90% are copy number polymorphisms, 10% are rare
1% of CNVs are de novo.
They are abundant in the genome
Significantly overlap with known genes
They influence gene expression
They exist in unstable areas of the genome with a high mutation rate
These areas are often flanked by Low Copy Repeats - these cause a high mutation rate/CNV generation due to non-allelic homologous recombination between neighbouring LCRs

	Criado por Ellie Quinn quase 11 anos atrás

Notas sobre CNVs, criado por Ellie Quinn em 05-02-2014.