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Table 1 Probabilistic model specifying chromosome-specific copy number at a single marker given the total copy number[21]

From: Copy number variation genotyping using family information

Total

copy number

Chromosome-specific

copy number

Probability

0

0/0

1

1

0/1

1

2

1/1(common form)

1−a

 

0/2 (rare form)

a

3

1/2 (common form)

1−a

 

0/3 (rare form)

a

4

2/2

0.5

 

1/3

0.5