Euchromatic variants (EVs) - large scale cytogenetically visible copy number variants

 

Band

var(4)

(p16.1p16.1)

var(8)

(p23.1p23.1)

var(9)

(p12p12)

var(9)dup(9)

(p11.2p13.1)

var(9)dup(9) OR

var(9)trp(9)

(q13q21.12))

var(9)

del(9) OR

var(9) dup(9)

(q13q21.12)

var(15)

(q11.2q11.2)

 

var(16)

(p11.2p11.2)

 

Content

DEFB/OR/

BUB and

DRD5 genes

DEFB/OR

genes/

pseudo-

genes

1.0 Mb

repeat

Multiple genes, pseudo-genes, gene fragments and CNVs

NF1/IGVH/

GABRA5/

BCL8A

pseudo/genes

IGVH/CTD/

ADL/

FLJ46121/

TP53TG3

pseudo/genes

Control

copy number

2

2 - 7

?4

4

4

4

NF1:     1-4

IGVH:  1-3

4

Variant

copy number

6

9 - 12

7 - 14

5 - 6

5 OR 6

3 OR 5

NF1:    5-10

IGVH:  4-9

10 - 12

 

Balikova

et al

Am J Hum Genet

2003;82:

181-187

Hollox et al

Am J Hum Genet

2003;73:

591-600

Lecce et al

Hum Genet

2006;118:

760-766

Di Giacomo

et al

Prenat Diagn, 2004;24:619-622

Willatt et al

Eur J Hum Genet, 2007;15:45-52 Mevatee et al

Chromosome Res 13 Suppl 1 1.33P

Fantes et al

J Med Genet

2002;39:170-177

Barber et al

Hum Genet

1999;104:211-218

 

 

 

Euchromatic Variant (EV) Chart

Idiograms with the position at which EVs occur marked by arrows.

Group 1 EV imbalances are in blue; Group 2 EV in purple and Group 3 EV in red.

Figures give the number of times independent families with the same rearrangement have been reported (e.g. 8 etc).

Submission Form

 

National Genetics Reference Laboratory (Wessex)
Salisbury District Hospital
Salisbury