Table 1.
Demographics.
| Clinical ascertainment | ||||||||
| CNV loci | Copy number | Age mean (SD) | Male/Female | TIV mean (SD) | FSIQ mean (SD) | ASD | SCZ | Other diagnosis |
| 1q21.1 |
Deletions N = 29 |
29 (18) | 11/18 | 1.22 (0.14) |
90.85 (21.75) N = 26 |
1 | – | 7 |
|
Duplication N = 19 |
34 (17) | 10/9 | 1.57 (0.11) |
95.56 (23.19) N = 18 |
1 | – | 4 | |
| 16p11.2 |
Deletions N = 83 |
17 (12) | 47/36 | 1.54 (0.17) |
82.17 (14.99 N = 64 |
13 | – | 36 |
|
Duplication N = 73 |
31 (14.9) | 41/32 | 1.33 (0.17) |
85.47 (19.48) N = 63 |
10 | 1 | 19 | |
| 22q11.2 |
Deletions N = 74 |
16 (8.6) | 35/39 | 1.30 (0.15) |
77.42 (13.51) N = 48 |
9 | 2 | 32 |
|
Duplication N = 22 |
20 (14.2) | 15/7 | 1.47 (0.16) |
97.83 (20.34) N = 12 |
2 | – | 8 | |
| Controls N = 331 | 26 (14.6) | 189/142 | 1.46 (0.15) |
106.73 (15.03) N = 224 |
1 | – | 23 | |
| Non-clinical ascertainment | ||||||||
| CNV loci | Copy number | Age mean (SD) | Male/Female | TIV mean (SD) | UKB FI mean (SD) | ASD | SCZ | Other diagnosis |
| 1q21.1 |
Deletions N = 10 |
59.1 (6.7) | 6/4 | 1.35(0.12) |
−0.8 (0.5) N = 9 |
– | 1* | 3 |
|
Duplication N = 9 |
60.6 (7) | 2/7 | 1.55(0.14) |
0.2 (1.3) N = 9 |
– | – | – | |
| 15q11.2 |
Deletions N = 72 |
63.4 (7.6) | 31/41 | 1.54(0.15) |
−0.3 (0.9) N = 63 |
– | – | 2 |
|
Duplication N = 76 |
62.9 (7.3) | 36/40 | 1.49(0.15) |
0 (1.1) N = 71 |
– | – | 6 | |
| 16p11.2 |
Deletion N = 4 |
65.6 (3.2) | 3/1 | 1.56(0.13) |
0.8 (0.5) N = 2 |
– | – | – |
|
Duplication N = 4 |
69.3 (2.1) | 1/3 | 1.29(0.11) |
−1.6 (0.2) N = 4 |
– | – | – | |
| 22q11.2 |
Deletion N = 1 |
69.8 (–) | 1/– | 1.44(-) | – | – | – | – |
|
Duplication N = 8 |
62 (9.5) | 4/4 | 1.55(0.17) |
−0.2 (1.1) N = 8 |
– | – | 1 | |
| Controls N = 965 | 62.1 (7.4) | 358/607 | 1.51(0.14) |
0 (1) N = 866 |
– | 2* | 65 | |
CNV copy number variant, SD standard deviation, TIV total intracranial volume, FSIQ full scale IQ, UKB FI UK Biobank fluid intelligence, ASD autism spectrum disorders, SCZ schizophrenia (including * ICD10 code F25.9 Schizoaffective disorder, unspecified).
CNV carriers and controls from the clinically ascertained group come from five different cohorts (Supplementary Table 1), while non-clinically ascertained participants were identified in the UK Biobank. 16p11.2 and 22q11.2 from the UKBB were not included in the VBM and SBM due to small sample size. Other diagnosis included: language disorder, major depressive disorder, posttraumatic stress disorder (PTSD), unspecified disruptive and impulse-control and conduct disorder, social anxiety disorder, social phobia disorder, speech sound disorder, moderate intellectual disability, specific learning disorder, gambling disorder, bipolar disorder, conduct disorder, attention deficit/hyperactivity disorder ADHD, Substance abuse disorder, global developmental delay, motor disorder, obsessive compulsive disorder, sleep disorder, Tourette’s disorder, mood disorder, eating disorders, transient tic disorder, trichotillomania, pervasive developmental disorder NOS, specific phobia, body dysmorphic disorder, mathematics disorder, dysthymic disorder.