Table 2. Statistics of CNVs detection by PSCC for 34 clinical samples.
Variation Type | Size | Detected by PSCC | Consisted with pathogenic CNVs in aCGH | Consisted with benign CNVs in aCGH | Validation of qPCR* |
Deletion | 300 k∼1 M | 7 | 2 | 4 | 3/3 |
1 M∼5 M | 11 | 10 | - | 1/1 | |
5 M∼10 M | 4 | 4 | - | - | |
>10 M | 3 | 3 | - | - | |
Duplication | 300 k∼1 M | 12 | 2 | 9 | 8/8 |
1 M∼5 M | 3 | 3 | - | - | |
5 M∼10 M | 3 | 3 | - | - | |
>10 M | 4 | 4 | - | - |
Validation of qPCR, the results were expressed as A/B. A means the number of successful validated and B means the total number of validate loci.