Table 3.

Case-control analysis of recurrent deletions

Deleted Region	Initial Call	Final Call	Cases	Controls	OR	Lower 95% CI	Upper 95% CI	p-value	Itsara et al. Study†
22q11.2	pCNV	pCNV	93	0	∞	15.96	∞	9.15E-21	7.93E-09
16p11.2	pCNV	pCNV	67	5	8.64	3.52	27.49	6.34E-10	0.186
1q21.1	pCNV	pCNV	55	3	11.82	3.84	59.07	5.38E-09	1.67E-04
15q13.2-q13.3 BP4-BP5	pCNV	pCNV	46	0	∞	7.71	∞	1.44E-10	1.08E-05
15q11.2-q13 BP2-BP3	pCNV	pCNV	41	0	∞	6.84	∞	2.77E-09
7q11.23	pCNV	pCNV	34	0	∞	5.62	∞	8.49E-08
16p13.11	pCNV	pCNV	22	3	4.72	1.42	24.62	0.0063
17q21.31	pCNV	pCNV	22	0	∞	3.52	∞	2.49E-05
17q12	pCNV	pCNV	18	0	∞	2.83	∞	0.00015
1q21	pCNV	pCNV	17	1	10.93	1.71	456.06	0.0026	*
17p11.2	pCNV	pCNV	16	0	∞	2.48	∞	0.00045
8p23.1	pCNV	pCNV	10	0	∞	1.44	∞	0.0084
3q29	pCNV	pCNV	9	0	∞	1.27	∞	0.0147	0.164
5q35	pCNV	pCNV	8	0	∞	1.10	∞	0.026

^†Itsara et al. performed a meta-analysis of segmental duplication-mediated regions on 6860 cases and 5674 controls. For regions in common, the p-value assessing the difference in CNV frequency between the cases and controls was included.

^*The 1q21 and 1q21.1 regions were combined in the Itsara et al. analysis.