Table 2.

Summary of recent genome-wide CNV studies of SZ.

				CNVs in case/control (interval in Mb and longest interval indicated; NA=data not available)
Study	Sample	Assay platform	Major findings	1q21.1	2p16.3 (NRXN1)	15q11.2	15q13.2	16p11.2	22q11.21	Reference
Kirov 2008	93 SZ trios	Array CGH	Two CNVs likely to be pathogenic	NA	1 del (51.14–51.32)	NA	1 dup (26.94–28.01)	NA	NA	[30]
Walsh 2008	150 cases/268 controls; 92 childhood onset SZ cases	Array CGH	Rare CNVs in 15% cases vs. 5% controls	1/0 del (144.94–146.29)	1/0 del (50.02–50.14)	NA	NA	2/0 dup (29.65–30.23)	NA	[31]
Xu 2008	359 SZ trios as screening sample; 152 cases/159 controls	Affy 5.0	In sporadic cases, frequency of rare de novo CNVs was 10% vs. 1.3% in controls	1/0 del (144.32–144.44)	NA	NA	NA	NA	3/0 del (17.05–19.99)	[32]
Stefansson 2008	1433 cases / 33,250 controls; 3 CNVs (1q21.1, 15q11.2 and 15q13.3) were followed up in 3,285 cases / 7,951 controls	Varies	Three rare CNVs (1q21.1, 15q11.2, and 15q13.3) showed nominal association	11/8 del (144.94–146.29)	0/2 del (50.95–51.16)	26/79 del (20.3–20.8)	7/8 del (28.72–30.30)	2/11 del (29.56–30.09)	8/0 del	[33]
ISC 2008	3,391 cases / 3,181 controls	Affy 5.0/6.0	Rare (<1%) and large CNVs (>100kb) are enriched in cases (1.15-fold); 3 regions (1q21.1, 15q13.2, and 22q11.21) showed significant association	10/1 del (143.72–146.95)	5/6 del (50.8–51.50)	26/11 del (20.3–20.8)	9/0 del (28.0–31.0)	NA	13/0 del (17.11–19.92)	[34]
Kirov 2009	471 cases / 2,792 controls	Affy 500K	Large CNVs (>1Mb) were 2.26 times over-represented in cases	0/2 del (144.9–146.3)	1/3 del	4/14 del (20.3–20.8)	0/0 del	NA	2/0 del (17.3–19.8)	[35]
Need 2009	1,013 cases / 1,084 controls	HumanHa p300, 550, or 610	Large CNVs (>2Mb) are enriched in cases	1/0 del (144.1–146.3)	3/1 del	NA	NA	NA	4/0 del (16.4–19.8)	[10]
			Summary frequency of implicated CNV (case vs. control)	0.23% vs. 0.02% (del)	0.17% vs. 0.03% (del)	0.65% vs. 0.22% (del)	0.18% vs. 0.02% (del)	0.19% vs. 0.003% (dup)	0.44% vs. 0% (del)