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Table 2 Selected predicted best scored variants of unkown significance

From: Multiple samples aCGH analysis for rare CNVs detection

Case

Gain/loss

Cytoband

Size (Mb)

Oligo nr.

Score

ISCA

Diagnosis

1

Del

8q22.2

0.25

56

100%

5

Autism

2

Del

5q35.3

0.7

27

93%

6

Mental retardation

3

Dup

3p26.3

0.33

21

90%

10

Mental retardation

4

Dup

12q24.32

0.4

9

88%

7

Mental retardation

5

Dup

4q28.2

0.12

77

87%

6

Mental retardation

6

Dup

3p22.3

1.2

30

83%

4

Autism

7

Dup

6q25.3

0.9

17

82%

4

Mental retardation

8

Del

4q21.23q21.3

0.95

22

81%

4

Autism