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Table 2 Inferred DMD copy number variants in test samples

From: Clinical analysis of germline copy number variation in DMD using a non-conjugate hierarchical Bayesian model

  

geneCNV exon-level calls

Sample ID

Coriell/MLPA status

Targets

Class

Copy number

Mean posterior

Genomic Region

NA05117

Ex45DEL

Ex45

Deletion

1

1.0

X:31986445-31986641

NA04099

Ex49-52DEL

Ex49-52

Deletion

1

1.0

X:31747737-31854949

NA05159

Ex46-50DEL

Ex46-50

Deletion

1

1.0

X:31838081-31950354

NA07692

Ex1-18DEL

Ex1-18

Deletion

1

1.0

X:32536114-33229673

  

Ex2-9

Duplication

3

0.9975

X:32715976-33038327

NA23087

Ex2-30DUP

Ex11-22

Duplication

3

1.0

X:32490270-32662440

  

Ex24-25

Duplication

3

1.0

X:32481545-32482826

  

Ex27-30

Duplication

3

1.0

X:32429858-32466765

NA23094

Ex35-43DEL

Ex35-43

Deletion

1

1.0

X:32305635-32383326

NA23099

Ex8-17DUP

Ex8-17

Duplication

3

0.9376

X:32563265-32717420

  

Ex5a

Duplication

3

0.6521

X:3284140-328415141

NA04315

Ex44DEL

Ex44

Deletion

1

1.0

X:32235022-32235190

  

Ex2a

Deletion

1

0.7831

X:33038245-33038327

  1. Mean posterior represents the average posterior probability for the copy number status indicated across the targets called.
  2. aIndicates an exon-level false positive result not consistent with MLPA CNV status. Mean posterior values for these exons are significantly lower than for other calls