Figure 1

De novo CNVs detected with 500 K but not 100 K AGH in children with idiopathic ID. The plots show in silico comparison of estimated copy number in child versus mother (left) and child versus father (right) at each position along the chromosome. Upper panel: Smoothed copy number plots for chromosome 8 in Family 3890. Affymetrix 100 K AGH is shown with a 59 SNP window, and Affymetrix 500 K AGH is shown with a 170 SNP window. Note duplication at 111,442,951 to 113,003,770 bp that is apparent on 500 K AGH but was not called on our original analysis of the 100 K AGH data. The CNV is represented by 59 SNPs on the 100 K array. Lower panel: Smoothed copy number plot for chromosome 4 in Family 4840. Affymetrix 100 K AGH is shown with a 13 SNP window, and Affymetrix 500 K AGH is shown with a 145 SNP window. Note deletion at 1,346,924 to 2,846,261 bp that is apparent on 500 K AGH but was not called as de novo by 100 K AGH on our initial analysis. This CNV is represented by 17 SNPs on the 100 K array.