Formal tests of the CVCD and RVCD hypotheses have been carried out in the form of genome-wide association studies (GWAS) (Manolio et al., 2008) and CNV studies (International schizophrenia Consortium, 2008; Sebat et al., 2007; Walsh et al., 2008) respectively. In the following sections, we discuss findings of CNV studies in autism, schizophrenia and bipolar disorder.