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Table 1 Sample information and de novo substitution calls

From: The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

 

MdnCNV cases

Anonymized control cases

Family

HOU1209a

HOU1404a

HOU3425a

HOU3579

mCNV7a

Average (95 CI)

Fam1

Fam2

Fam3

Fam4

Fam5

Average (95 CI)

Individual (gender)

BAB3097 (F)

BAB3596 (M)

mCNV3/BAB9484 (M)

BAB9637 (M)

mCNV7 (F)

P1

P2

P3

P4

P5

Parental age of conception (years)

Mother

29.4

37.0

37.8

36.9

35

35.2 (31.0–39.5)

17.2

30.3

41

28.4

32.3

29.8 (19.2–40.5)

Father

29.7

41.7

41.6

35.9

37

37.2 (31.0–43.3)

19.2

29.9

46.1

27.7

34.2

31.4 (19.2–43.7)

Number of de novo substitution mutationsb

Germline SNV

75

94

102

74

89

93.2 (75.3–111.1)

47

69

98

64

72

72.2 (48.8–95)

Post-zygotic SNV

9

5

9

4

9

7.2 (4.1–10.3)**

1

3

2

2

3

2.2 (1.2–3.2)

Total

84

99

111

78

98

93.2 (75.3–111.0)

48

72

100

66

75

72.2 (48.9–95.5)

Ti:Tv ratio

1.8

2.1

1.6

2.0

2.3

2.2 (1.62–2.30)

2.4

2.4

1.1

3.1

2.0

2.2 (1.29–3.1)

  1. M Male, F Female, SNV Single-nucleotide variant, CNV Copy number variant, CI Confidence interval, **p < 0.01; Ti Transition, Tv Transversion
  2. aMdnCNV families first reported in Liu et al.[9]
  3. bVariants at the breakpoint junction are not included for the comparison