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Table 1 Previously reported (A) and novel (B) CNVs

From: Large-scale copy number variants (CNVs): Distribution in normal subjects and FISH/real-time qPCR analysis

 

Number

Cytoband

Clone Name

Position (Mb)

Ethnic origin

Duplication

Deletion

Overlap with segmental duplications

Genes on OMIM list

Biological process

Group A

1

1p36.13

RP1-163M9*

16.1

AA

1

 

Yes

  
 

2

1p13.3

RP11-259N12

103.4

2C, AA, 2H

3

2

Yes

AMY2A, AMY1A, AMY1B, AMY1C

Glycogen metabolism

 

3

1q42.13

RP5-1016N21

229.7

C, H

 

2

No

  
 

4

2p12

RP11-345F13

82.8

AA

1

 

No

  
 

5

2qter

RP5-1011O17

242.9

C, 2H

 

3

Yes

  
 

6

3q26.3

RP11-114M1

178.8

H

 

1

No

  
 

7

4q25

RP11-18D18

112.7

H

 

1

No

  
 

8

6pter

AL035696.14

0.1

H

 

1

Yes

  
 

9

6q12

RP11-80L16

67

AA

 

1

No

  
 

10

6q24.1

RP1-69B13

146.7

H

 

1

No

GRM1

G-protein mediated signaling, neuronal activities

 

11

7pter

RP1-164D18

0.1

AA

1

 

No

  
 

12

7p21.1

IIID11

18.8

C

1

 

No

  
 

13

8p22

RP11-89M16

17.2

C

 

1

No

SLC7A2, PDGFRL

Amino acid transport, receptor protein tyrosine kinase signaling pathway

 

14

10qter

CTC-261B16

135.2

AA

1

 

No

  
 

15

11q22.3

RP11-179B7

104.4

AA

 

1

No

  
 

16

12p13.2

RP11-144O23

10.9

H

1

 

No

TAS2R7, TAS2R8, TAS2R9, TAS2R10, PRR4, PRH1, TAS2R13, PRH2, TAS2R14

Taste receptor activity, visual perception, cell adhesion-mediated signaling, immunity and defense

 

17

13q21.1

RP11-100C24

56.7

4C, AA, 4H

5

4

No

  
 

18

14q12

RP11-125A5

27.6

C, 3H

2

2

No

  
 

19

15q11.2

RP11-80H14

20.4

H

1

 

No

CYFIP1

Signal transduction, developmental processes

 

20

16p11.2

RP11-499D5 *

33.8

H

 

1

Yes

  
 

21

16p11.2

RP11-488I20 *

35.6

H

1

 

No

  
 

22

16p11.1

RP11-80F22 *

35.7

C, 2H

3

 

No

  
 

23

17pter

CTB-68F18

0.1

C

1

 

No

RPH3AL

Synaptic transmission

 

24

17q24.3

RP11-300G13

68.6

H

 

1

No

KCNJ16, KCNJ2

Cation transport, muscle contraction

 

25

19p13.2

RP11-79F15

8.8

C, 2AA, 2H

1

4

Yes

MBD3L1, MUC16

mRNA transcription

 

26

19qter

1129-c9

76

C

1

 

No

  

Group B

1

2q14.3

RP11-270M20

125.3

C

1

 

No

CNTNAP5

Cell adhension-mediated signaling, synaptic transmission

 

2

4q28.1

RP11-77P11

128.2

H

 

1

No

  
 

3

4q31.2

RP11-89E4

145.8

H

1

 

No

  
 

4

6p24

RP1-103M22

9.5

H

 

1

No

  
 

5

7q33

RP11-140I14

134.6

AA

1

 

No

CNOT4

mRNA transcription regulation

 

6

10p12.3

RP11-91D9

19.7

H

 

1

No

  
 

7

12pter

RP11-598F7 *

0

C

1

 

No

SLC6A12

neurotransmitter transport

 

8

13q13.1

RP11-87G1

33

AA

1

 

No

  
 

9

19q13.43

F21283

63.7

H

1

 

No

MZF1

regulation of transcription

 

10

Xpter

LLNOYCO3M11D2

0

3C, AA

2

2

No

  
 

11

Xp11.3

RP11-252K10

41.7

H

 

1

No

  
 

12

Xp11.21

RP11-266I3 *

53.7

AA

1

 

Yes

  
 

13

Xp11.1

ICRFC100G11100

56.1

C

1

 

No

  
 

14

Xq21.1

RP11-192B18

84.4

H

 

1

No

  
 

15

Xq26.2

CTB-45B24

131.4

H

 

1

No

PCYT1B, PHF6

Regulation of metabolism and transcription, ovarian follicle development, spermatogenesis

 

16

Yq11.2

RP11-91A13 *

17.7

AA

1

 

Yes

  
  1. Note: * Clone showing multiple sites based on e-FISH.
  2. AA: African American; H: Hispanic; C: Caucasian.
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