Ontology highlight
ABSTRACT:
SUBMITTER: Zhang F
PROVIDER: S-EPMC4464790 | biostudies-literature | 2009 Jul
REPOSITORIES: biostudies-literature
Zhang Feng F Carvalho Claudia M B CM Lupski James R JR
Trends in genetics : TIG 20090625 7
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 ...[more]