may not be encoded in individual CNVs but in combination of CNVs; or alternatively, second, that disorder specificity may be coded in the overall burden measures with distinct thresholds for different disorders. Of course, these hypotheses will await deep genotyping in large population cohorts with quality phenotypic assessments. Further, we also should point out, that while in general there is a low level of specificity, there are some exceptions. For example, there are some CNVs that generally lead to specific syndromes, for example, 7q11.2 deletions are almost always recognized in William syndrome and rarely recognized in other disorders.73 Also, in our data, schizophrenia may standout as the disorder with the least amount of overlap with ID. For example, 16p11.2 deletions and duplications are associated with ASD9–12 and ID18–20, 42, but only 16p11.2 duplications are associated with schizophrenia.13–16, 71
