Table 1 List of de novo CNVs found in the study

From: De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia

Cytoband	Location	Type	Size (bp)	Genes	Origin of mutation, F:M SNPs	Diagnosis	Schooling	Children	Age at onset/ age at sampling	Somatic
1q21.1	chr1:144101459–144503409	Del	401 950	16 genes, TAR region	10F:0M	SA	V good, college	2	40/49	Psoriasis
1q43	chr1:235475280–235639644	Del	164 364	RYR2	12F:0M	SZ, par	Good	—	21/33	Patent ductus arteriosus^b
2q21.2	chr2:133504420–133879778	Del	375 358	NAP5	7F:0M	SZ, par	V good	1	18/25	—
3q13.12	chr3:109330592–110198715	Dupl	868 123	9 genes	11F:0M	SZ, cat	Pass	2	33/48	—
3q29^a	chr3:197185548–198825231	Del	1 639 683	21 genes, 3q29 syndrome	56F:0M	SZ, par	Good, college	—	19/45	Congenital heart disease
4q13.3	chr4:70935504–70969553	Del	34 049	HTN1, HTN3	—	SZ, cat	Excellent, college	—	24/33	—
4q21.21	chr4:79944612–80081979	Del	137 367	BMP2K, PAQR3	—	SZ, par	Excellent	1	32/33	—
6q12	chr6:68675955–68761101	Dupl	85 146	—	—	SZ, par	Excellent	—	23/29	Hypertension
7p14.1	chr7:38260614–38307187	Del	46 573	TARP	—	SA	Excellent, university	—	17/24	Asthma
7q11.23	chr7:72390286–76445231	Dupl	4 054 945	38 genes, WBS region	1F: 45M	SZ, dis	V good	—	17/28	—
7q32.1	chr7:127275795–127447967	Del	172 172	C7orf54, SND1	—	SA	V good	—	25/35	—
8p23.2	chr8:4121968–4299810	Del	177 842	CSMD1	0F:23M	SZ, par	Excellent, university	—	17/37	—
8p23.1	chr8:10066862–10155414	Del	88 552	MSRA	—	SZ, par	Pass	—	15/41	—
9p22.3	chr9:16310745–16327782	Del	17 037	—	—	SA	Excellent, university	1	34/37	—
9q31.3	chr9:110859131–111433199	Dupl	574 068	4 genes	—	SZ, ns	Pass	—	9/26	—
9q34.3	chr9:139762152–139797423	Dupl	35 271	EHMT1	—	SZ, ns	V good	2	20/37	Overweight
9q34.3	chr9:139769564–139792102	Del	22 538	EHMT1	—	SZ, dis	Pass	1	24/36	Overweight
11q14.1	chr11:83472750–83842973	Del	370 223	DLG2	0F:M12	SZ, cat	V good, college	—	18/22	—
11q14.1	chr11:84006106–84226064	Del	219 958	DLG2	10F:0M	SZ, par	Pass	2	20/35	—
12q24.13	chr12:111723795–111776045	Del	52 250	RPH3A	—	SZ, par	Good	—	21/33	Patent ductus arteriosus^b
12q24.33	chr12:130388037–130659530	Dupl	271 493	—	—	SZ, par	Good	—	27/33	—
13q14.11	chr13:40319620–41182276	Del	862 656	8 genes	15F:0M	SZ, par	Good	—	22/33	—
14q13.2	chr14:34464771–34627720	Del	162 949	3 genes	1F:0M	SA, FH+	Excellent	—	16/24	—
15q11.2^a	chr15:19548923–20852202	Del	1 303 279	8 genes	0F:16M	SZ, par	Pass	—	32/42	—
15q11.2^a	chr15:20224751–20777909	Dupl	553 158	5 genes	0F:10M	SA	Pass	1	20/28	—
15q11.2^a	chr15:20224751–20852202	Dupl	627 451	5 genes	0F:8M	SA	Good	—	29/31	—
15q11.2^a	chr15:20302446–21038975	Del	736 529	6 genes	19F:0M	SZ, par	V good	1	17/28	—
15q13.1	chr15:26785056–28289366	Dupl	1 504 310	4 genes	0F:2M	SZ, dis	Pass	—	23/43	—
15q13.3^a	chr15:28707904–30326817	Del	1 591 596	7 genes	93F:0M	SZ, par	Pass	—	31/38	—
15q13.3^a	chr15:28707904–30299500	Del	1 618 913	7 genes	25F:0M	SZ, par	V good	—	32/52	—
16p11.2^a	chr16:29488112–30099396	Dupl	611 284	31 genes	21F:0M	SZ, par	Excellent, college	1	35/46	Rheumatoid arthritis
18p11.31	chr18:3515935–4332609	Del	816 674	DLGAP1, FLJ35776	61F:0M	SZ, par	Good	1	18/25	—
20p12.1	chr20:14694326–14863051	Del	168 725	MACROD2	2F:0M	SZ, cat	V good	1	32/37	—
21q21.1	chr21:22698250–22778244	Del	79 994	—	—	SA	Excellent, university	—	29/30	Single febrile convulsion

Abbreviations: CNV, copy number variant; SA, schizoaffective disorder; SNP, single-nucleotide polymorphism; SZ, cat, catatonic schizophrenia; SZ, dis, disorganised schizophrenia; SZ, ns=schizophrenia, not otherwise specified; SZ, par, paranoid schizophrenia; TAR thrombocytopenia absent radius; WBS, Williams–Beuren syndrome.
^aIndicates a known schizophrenia locus.
^bSame patient who has two de novos.
Origin of mutation indicates whether the mutation had occurred on the paternal or maternal chromosome. The number of informative SNPs supporting parental origin are given in the order father(F):mother(M). Additional detail is given in Supplementary Section 6. Coordinates in the paper refer to the UCSC (University of California, Santa Cruz) human genome assembly hg18 (National Center for Biotechnology Information (NCBI) build 36). Final school results in Bulgaria are reported as 2=fail, 3=pass, 4=good, 5=very good, 6=excellent.

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Table 1 List of de novo CNVs found in the study

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