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Table 2 Details regarding 24 males with azoospermia and oligospermia with chromosome X microduplication CNVs and the involved genes

From: Copy number variations (CNVs) and karyotyping analysis in males with azoospermia and oligospermia

Cases

 

Chromosomal location

Start-End position

Size (Mb)

Azoospermia

Oligospermia

Number of Genes

CNVs involved genes

1

 

dup(X)(p11.21)

56,780,001–57,080,000

0.30 Mb

 

Yes

3

NBDY, et al.

2

 

dup(X)(p21.1p11.4)

37,440,001–37,980,000

0.54 Mb

Yes

 

13

PRRG1, et al.

3

 

dup(X)(p22.31)

7,480,001–7,820,000

0.34 Mb

Yes

 

0

 

4*

 

dup(X)(p22.31)

6,460,001–7,220,000

0.76 Mb

Yes

 

6

VCX3A, et al.

5*

 

dup(X)(p22.31)

7,760,001–8,280,000

0.52 Mb

Yes

 

6

VCX, et al.

6

 

dup(X)(p22.31)

6,140,001–6,420,000

0.28 Mb

 

Yes

3

NLGN4X, et al.

7

 

dup(X)(p22.31)

6,460,001–7,040,000

0.58 Mb

Yes

 

4

VCX3A, et al.

8*

 

dup(X)(p22.31)

6,540,000–7,060,000

0.52 Mb

Yes

 

3

PUDP, et al.

9*

 

dup(X)(p22.33)

3,460,001–3,860,000

0.40 Mb

Yes

 

9

SNORA48B, et al.

  

dup(X)(q28)

154,620,000–154,780,000

0.16 Mb

  

12

CTAG2, et al.

10

 

dup(X)(p22.33)

3,500,001–3,840,000

0.34 Mb

 

Yes

8

SNORA48B, et al.

11

 

dup(X)(p22.33)

3,480,001–3,860,000

0.38 Mb

 

Yes

9

SNORA48B, et al.

12*

 

dup(X)(q11.2)

63,220,001–63,420,000

0.20 Mb

Yes

 

6

SPIN4, et al.

13

 

dup(X)(q21.1)

77,320,001–78,260,000

0.94 Mb

 

Yes

15

FGF16, et al.

14

 

dup(X)(q21.1)

78,860,001–79,160,000

0.30 Mb

Yes

 

4

P2RY10, et al.

15*

 

dup(X)(q21.31)

86,280,001–86,380,000

0.10 Mb

 

Yes

2

DACH2, et al.

16

 

dup(X)(q21.33)

94,080,001–94,240,000

0.16 Mb

Yes

 

0

 

17

 

dup(X)(q21.33)

95,120,001–95,520,000

0.40 Mb

Yes

 

1

CALM1P1.

18*

 

dup(X)(q25)

122,880,001–123,140,000

0.26 Mb

Yes

 

1

MRRFP1.

19

 

dup(X)(q26.3)

133,860,000–134,200,000

0.34 Mb

Yes

 

9

GPC3, et al.

20*

 

dup(X)(q26.3)

136,000,001–136,540,000

0.54 Mb

Yes

 

10

ADGRG4, et al.

21

 

dup(X)(q27.2)

140,340,001–140,680,000

0.34 Mb

 

Yes

4

SOX3, et al.

22

 

dup(X)(q27.2)

140,360,000–140,780,000

0.42 Mb

 

Yes

6

SOX3, et al.

23

 

dup(X)(q28)

152,220,000–152,520,000

0.30 Mb

Yes

 

6

GABRA3, et al.

24

 

dup(X)(q28)

148,880,000–150,140,000

1.26 Mb

 

Yes

27

HSFX2, et al.

  1. * represent chromosome X accompanied by others chromosomal microdeletion and microduplication, was showed in supplemental Table 5. All genes of CNVs covered was showed in supplemental material of excel 1 (sheet 1)