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[Preprint]. 2023 Sep 5:2023.09.04.23294975. [Version 1] doi: 10.1101/2023.09.04.23294975

Figure 1: Population-based rCNV prevalence in iPSYCH2015 and comparison with UKB.

Figure 1:

a) Population-based prevalence in iPSYCH2015 of deletions (x-axis) and duplications (y-axis) at 18 rCNV loci. Dashed line indicates del-dup prevalence parity. The 8 loci with significant del-dup prevalence disparity (PFDR<0.05) are indicated on the plot. b) Population-based rCNV prevalence of deletions (left) and duplications (right) in iPSYCH2015 (full colour, above) compared to that reported for the UKB12 (semi-transparent colour, below), with loci ordered from top to bottom by decreasing sum LOEUF score28. In the UKB study, 22q11.2b (turquoise) was not included as an independent locus and the prevalence of PWAS deletion was <1/100,00012. Significant differences in prevalence between the two studies are indicated with asterisks (PFDR<0.05 (*), <0.01 (**), and <0.001 (***), respectively). Error bars indicate the standard error (SE) of the weighted population-based prevalence in iPSYCH2015 and observed prevalence in UKB12, respectively. For detailed results see Supplementary Table 1.