Table 1 Dataset demographics

From: Using rare genetic mutations to revisit structural brain asymmetry

Loci

Chr (hg19) start-stop

nGenes (Gene)

Type

Subjects

Age (SD) [range]

Sex (M/ F)

ASD | SZ

1q21.1

chr1

7

Del

32

40 (17) [9–73]

14 / 18

0 | 0

146.53–147.39

CHDIL

Dup

27

44 (15) [8–66]

11 / 16

3 | 0

15q11.2

chr15

4

Del

110

55 (7) [40–69]

50 / 60

0 | 0

22.81–23.09

CYFIP1

Dup

144

54 (7) [40–69]

67 / 77

0 | 0

16p11.2

chr16

27

Del

82

19 (15) [7–63]

48 / 34

10 | 0

29.65–30.20

KCTD13

Dup

69

32 (15) [8–63]

39 / 30

7 | 1

22q11.2

chr22

49

Del

66

19 (13) [6–66]

32 / 34

8 | 2

19.04–21.47

AIFM3

Dup

22

26 (19) [8–66]

12 / 10

2 | 0

Controls

290

26 (14) [6–64]

162 / 128

1 | 0

  1. CNV loci chromosome coordinates are provided with the number of genes encompassed in each CNV and a well-known gene for each locus to help recognize the CNV. ASD and SCZ diagnoses for clinically ascertained CNV carriers were obtained from respective data acquisition sites. SCZ diagnosis in the UK Biobank corresponded to the ICD10 code, including schizophrenia, schizotypal, and delusional disorders (F20-F29). ASD diagnosis in the UK Biobank corresponded to the ICD10 code that included diagnoses of childhood autism (F84.0), atypical autism (F84.1), Asperger’s syndrome (F84.5), other pervasive developmental disorders (F84.8), and pervasive developmental disorder, unspecified (F84.9).
  2. Del deletion, Dup duplication, ASD: autism spectrum disorder, SZ schizophrenia, chr chromosome, Age mean age, SD standard deviation, nGenes number of genes.