A considerable and unanticipated plasticity of the human genome, manifested as inter-individual copy number variation, has been discovered. These structural changes constitute a major source of ...

A large proportion of these patients harbor cryptic copy number alterations (CNAs) or copy-neutral loss of heterozygosity (CN-LOH) when interrogated using array-based technologies (comparative ...

The mutations, known as copy number alterations, involve the duplication or loss of large segments of DNA. In most cases, the body's natural DNA repair mechanisms correct these changes.