Roche NimbleGen's CGH microarray platform was used to generate the highest-resolution map of human genome copy number variation. Recent advances in microarray technology have led to the discovery of extensive copy number variation in the human genome, including DNA copy number gains (duplications), losses (deletions), and multiallelic or complex rearrangements. Copy number variants (CNVs) have been shown to contribute to inherited genetic disease and to confer resistance to infection, but the full extent of CNVs in the human population and the role of CNVs in common, complex diseases (e.g. diabetes, cardiovascular disease, psychiatric disorders) is not yet well understood.
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