We used a systematic approach to determine CNV intervals. For a given locus within a given disorder, if multiple intervals were determined, we chose intervals that were inclusive of all such CNVs, ie the largest interval covering all CNVs. If a CNV was found in two or more disorders, for the gene pathway analysis examining overlap across those disorders, we used the minimum interval, in the intersection of all relevant intervals. Genes were included in the pathway analysis if they were within or intersected by the genetic intervals determined as described above.
