Chunk #22 — Results — Analysis of rare de novo CNVs in the Simons Simplex Collection (SSC) — The distribution of de novo CNVs in probands, supports marked locus heterogeneity
The identification of multiple recurrent de novo events restricted to probands, and the absence of similar observations in siblings, led us to consider what these findings might indicate about the overall number of CNV-mediated ASD risk loci that are present in the genome. Consequently, we used the distribution of 67 de novo CNVs identified in SSC probands to calculate the number of regions likely to be contributing large rare de novo risk variants and estimated 130 loci (methods).
