Table 7 of
Zou, Mol Vis 2021; 27:1-16. Table 7 of
Zou, Mol Vis 2021; 27:1-16.
Table 7. CNVs identified by targeted NGS and MLPA methods.
| Sample ID | NGS results | Ratio | MLPA results | Reference |
|---|---|---|---|---|
| 17C024367 | Exon1–23 deletion | 0.32–0.53 | Exon1–23 deletion | 25,754,945 |
| 19C144823 | Exon1–17 deletion | 0.42–0.66 | Exon1–17 deletion | 23,301,675 |
| 19C149230 | Exon18 deletion | 0.51 | Exon18 deletion | 22,180,099 |
| 19C149232 | Exon1–27 deletion | 0.6–0.69 | Exon1–27 deletion | 12,541,220 |
| 19C149239 | Exon1–27 deletion | 0.47–0.57 | Exon1–27 deletion | 12,541,220 |
| CA1244B | Exon1–2 deletion | 0.47–0.54 | Exon1–2 deletion | 29,261,756 |
| CA1281B | Exon1–27 deletion | 0.48–0.62 | Exon1–27 deletion | 12,541,220 |
| CA1357B | Exon1–27 deletion | 0.5–0.57 | Exon1–27 deletion | 12,541,220 |
| CA1325B | Exons duplication? | 1.42–1.59 | Exon18–23 duplication | 26,530,098 |
| CA1323B | Exon1–27 deletion | 0.47–0.57 | Exon1–27 deletion | 12,541,220 |