To our knowledge, this is the first case in which a common risk allele showing genome-wide significant association with psychosis has turned out to be located within a CNV that had been previously associated with psychosis. Both copy number gain and loss of the 16p11.2 region are associated with multiple phenotypes. Duplication is associated with psychosis5, 6, 28, both copy number gain and loss are associated with autism and developmental delay6, 43-45, and duplication and deletion lead to reduction and enlargement, respectively, of head circumference and BMI46, 47.
