The duplication syndrome and copy number variation of the defensin gene cluster are cytogenetically indistinguishable but distinct at the molecular level. To our knowledge, the duplication syndrome has been described at prenatal diagnosis .
CD Genomics provides a number of options for those looking to perform copy number variation (CNV) analysis on several different microarray platforms depending on the organism, starting material and size of your project.
The Broad Institute plans to develop and roll out the next generation version of Genome Analysis Toolkit. The new service will include cancer, structural variation, copy number variation and related functionality.