Table 1. Frequencies of 22q11.2 duplications in cases and controls.

Study	Case 22q11.2dup frequency (N CNVs/N samples)	Control 22q11.2dup frequency (N CNVs/N samples)	P value (Fisher's exact test)	OR (95% CI)
Discovery	0% (0/6 882)	0.089% (10/11 255)	0.017 (2-Tail)
Replication
MGS EA	0.090% (2/2 215)	0.16% (4/2 556)
MGS AA	0% (0/977)	0.23% (2/881)
ISC	0% (0/3 395)	0.031% (1/3 185)
Irish/WTCCC2	0% (0/1 377)	0.10% (1/992)
African American	0.061% (1/1 637)	0% (0/960)
Swedish	0% (0/4 655)	0.066% (4/6 038)
Total replication	0.021% (3/14 256)	0.082% (12/14 612)	0.020 (1-Tail)
Total discovery+replication	0.014% (3/21 138)	0.085% (22/25 867)	0.00086 (2-Tail)	0.17 (0.050–0.56)
Other disorders
ID/DD/CM	0.32% (50/15 767)	0.085% (23/27 133)	5.9 × 10–8 (2-Tail)	3.75 (2.29–6.15)
ASD	0.28% (12/4 315)	0.085% (23/27 133)	0.002 (2-Tail)	3.29 (1.63–6.61)

Abbreviations: AA, African American; ASD, autism spectrum disorder; CI, confidence interval; CM, congenital malformations; CNV, copy number variant; DD, developmental delay; EA, European American; ID, intellectual disability; ISC, International Schizophrenia Consortium; MGS, molecular genetics of schizophrenia; OR, odds ratio; WTCCC2, Wellcome Trust Case Control Consortium 2. The frequencies found in ID, DD, CM, ASD and their respective controls were taken from a recent review by Malhotra et al.¹