Complex human chromosomal and genomic rearrangements.

@article{Zhang2009ComplexHC,
  title={Complex human chromosomal and genomic rearrangements.},
  author={Feng Zhang and Cl{\'a}udia M B Carvalho and James R Lupski},
  journal={Trends in genetics : TIG},
  year={2009},
  volume={25 7},
  pages={298-307}
}
Copy number variation (CNV) is a major source of genetic variation among humans. In addition to existing as benign polymorphisms, CNVs can also convey clinical phenotypes, including genomic disorders, sporadic diseases and complex human traits. CNV results from genomic rearrangements that can represent simple deletion or duplication of a genomic segment, or be more complex. Complex chromosomal rearrangements (CCRs) have been known for some time but their mechanisms have remained elusive. Recent… CONTINUE READING
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