| |
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