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. 2013 Dec 24;111(1):361–366. doi: 10.1073/pnas.1309324111

Table 1.

Chromosomal bands and genome coordinates of the CNVs associated with schizophrenia and neurodevelopmental disorders

Locus CNV region Hg19 coordinates N Gene boundaries Oh Size (kb) Associated disorders Refs
1q21.1 del Min 146,6-147,6 12 PRKAB2-NBPF24 4 1,050 Sz, ID, Epil, ASD 4, 5, 52, 53, 55
Max 146,5-148,7 20 PRKAB2- LOC645166 4 2,220
2p16.3 del Min 49,8-51,4 1 NRXN1 1 1,600 Sz, ID, Epil, ASD 3, 9, 52, 55, 56
Max 49,8-51,4 1 NRXN1 1 1,600
3q29 del Min 195,8-197,3 21 TFRC-BDH1 8 1,540 Sz, ID, ASD 55, 57, 58
Max 195,8-197,3 21 TFRC-BDH1 8 1,540
7q11.23 dup Min 72,4-74,2 37 NSUN5P2-GTF2I 9 1,770 Sz, ASD 59, 60
Max 72,4-74,2 37 NSUN5P2-GTF2I 9 1,770
7q36.1 del Min 145,3-148,1 1 CNTNAP2 1 2,860 Sz, ID 56, 61
Max 145,3-148,1 1 CNTNAP2 1 2,860
7q36.3 dup Min 158,8-159,0 1 VIPR2 1 140 Sz 54, 55
Max 157,3-159,0 7 PTPRN2-VIPR2 3 1,649
10q11.22-23 dup Min 49,3-51,6 28 FRMPD2-TIMM23 6 2,300 DD 62
Max 46,8-52,4 60 FAM35BP-SGMS1 15 5,600
15q11.2 del Min 22,7-23,2 5 TUBGCP5-WHAMMP3 2 500 Sz, ID, ASD 5, 52, 63
Max 22,7-23,2 5 TUBGCP5-WHAMMP3 2 500
15q11-q13 dup Min 23,8-28,6 14 MIR4508-HERC2 6 4,770 ASD 64
Max 22,4-29,1 34 OR4M2- LOC100289656 8 6,709
15q13.3 del Min 32,3-32,5 1 CHRNA7 0 160 Sz, ID, Epil. 5, 6, 49, 52, 53, 55, 63, 65, 66
Max 29,2-33,0 28 APBA2-SCG5 6 3,793
16p13.11 dup/del Min 15,5-16,3 9 MPV17L-ABCC6 4 850 Sz, ID, ASD, ADHD 46, 52, 63, 67
Max 14,9-18,6 26 NOMO1-NOMO2 5 3,671
16p11.2 dup Min 29,7-30,1 27 SPN-GDPD3 9 452 Sz, ID, Epil., ASD, ADHD, BD 12, 55, 64, 68-70
Max 29,6-30,2 32 SLC7A5P1-CORO1A 12 610
16p12.1 del Min 21,9-22,4 8 UQCRC2-CDR2 1 440 DD, Epil. 63, 64, 71
Max 21,8-22,4 13 RRN3P1-CDR2 2 600
17q12 del Min 34,8-36,1 15 ZNHIT3-HNF1B 5 1,290 Sz, HNPP, DD 72, 73
Max 34,4-36,1 24 CCL18-HNF1B 5 1,750
22q11 del Min 18,9-20,3 28 DGCR6-RTN4R 6 1,400 Sz, ID, ASD, ADHD, OCD, Mood 52, 53, 55, 64
Max 18,9-21,8 65 DGCR6- RIMBP3C 12 2,900

Minimal CNV region is defined as the smallest size typically associated, which should approximate to the “critical” deletion or duplication sufficient to cause the disease phenotype and maximal CNV region as the largest extent of deletion or duplication typically seen at the locus. ADHD, attention deficit hyperactivity disorder; ASD, autism spectrum disorder; BD, bipolar disorder; DD, developmental delay; Epil, epilepsy; HNPP, hereditary neuropathic pressure palsies; ID, intellectual disability; Mood, mood disorders (including depression); N, number of genes; OCD, obsessive compulsive disorder; Oh, number of ohnologs; Sz, schizophrenia.