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Table 1 Estimates for limits of duplicon containing CHRFAM7A

From: Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes

 

Segment(s)

Genotype

  

d/d

d/n

n/n

Copy number determinations

H/A

2

1

0

 

H

4

3

2

 

S

4

3

2

 

F

4

3

2

Segmental junction PCR

B/Q

+

+

+

 

M/A'

+

+

+

 

Z'/W

+

+

+

 

C/N

+

+

+

  1. Segments are as defined in Figure 2. Genotypes are defined by a d allele (containing duplicon) or n allele (lacking duplicon). Copy numbers for each segment or junction as shown. '+' indicates the presence of each segmental junction.
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Genome Biology

ISSN: 1474-760X

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