The unseen species problem was used to predict the total number of ASD risk-loci based on the distribution of de novo CNVs in probands. This required identification of the de novo CNVs that confer risk; to identify such CNVs we estimated that 75% of de novo CNVs in probands confer risk (67 de novo CNVs in probands – 16 de novo CNVs expected in siblings / 67 de novo CNVs in probands) and assumed that recurrent de novo CNVs were most likely to be associated with risk and should be included within this 75%. The remainder of the 75% is made up of 27 single occurrence de novo CNVs (though we do not identify which ones) leading to an estimate of the total number of risk conferring loci as 130 (c1=27, c=33, d=51). A similar approach was applied to all de novo CNVs in 3,816 probands (count derived from the literature), leading to an estimate of 234 risk conferring loci (c1=59, c=88, d=158).
