Table 1.
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.