Table 2.
Inferred DMD copy number variants in test samples
| 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 | ||
Mean posterior represents the average posterior probability for the copy number status indicated across the targets called.
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