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Table 2 Exon copy number variation contingency based on the whole per-exon CNV status

From: Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family

Copy number

Patient

Normal

Total

gain

n21

n20

n2+

normal

n11

n10

n1+

loss

n01

n00

n0+

 

n+1

n+0

8

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BMC Genomics

ISSN: 1471-2164

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