CNVs

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

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Present in public databases? e.g. Database of Genomic Variants, DECIPHER,  Is it de novo? Do expression profiling Look at protein-protein interactions Mouse models

DECIPHER is an online database of CNVs. The deletions and duplications are written alongside clinical characteristics of the patient. The aim is to determine the clinical consequences of the recorded CNVs through collaboration and comparison. 

Non-allelic Homologous Recombination

What are CNVs

Determining Pathogenicity

DECIPHER

NAHR