Table 4.

Case-control analysis of recurrent duplications

Duplicated Region	Initial Call	Final Call	Cases	Controls	OR	Lower CI	95% Upper 95% CI	p-value	Itsara et al. Study†
16p13.11	VOUS	VOUS	45	20	1.45	0.84	2.59	0.203
16p11.2	VOUS	pCNV	39	4	6.28	2.26	24.19	2.50E-05	0.100
15q11.2-q13 BP2-BP3	pCNV	pCNV	35	0	∞	5.79	∞	4.57E-08	2.69E-04
22q11.2	pCNV	pCNV	32	5	4.12	1.59	13.54	0.0011	0.330
1q21.1	pCNV	pCNV	28	3	6.00	1.85	30.88	0.0004	0.041
17q12	pCNV	pCNV	21	4	3.38	1.14	13.53	0.022
7q11.23	pCNV	pCNV	16	1	10.29	1.60	430.72	0.0046
17p11.2	pCNV	pCNV	15	0	∞	2.31	∞	0.0008
15q13.2-q13.3 BP4-BP5	VOUS	VOUS	14	3	3.00	0.84	16.28	0.083	**
1q21	VOUS	VOUS	9	12	0.48	0.179	1.25	0.116	*
3q29	pCNV	VOUS	8	1	5.14	0.69	227.96	0.100	1
8p23.1	pCNV	VOUS	6	0	∞	0.76	∞	0.088
5q35	pCNV	VOUS	2	0	∞	0.12	∞	0.52
17q21.31	N/A	N/A	0	0	nd	nd	nd	nd

^†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.

^**The 15q11.2-q13 and 15q13.2-q13.3 duplication regions were combined in the Itsara et al. analysis.