Table 3 The size and number of CNVs and other chromosome aneuploidies on each chromosome
Chr. | CNVs length | CNVs | Other chromosome aneuploidies | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
≤ 5 Mb | Within 5–10 Mb | > 10 Mb | NIPT positive | NIPT true positive | NIPT false positive | Unverified | NIPT positive | NIPT true positive | NIPT false positive | Unverified | |
Chr1 | 0 | 0 | 1 | 1 | 1 | 0 | 0 | / | / | / | / |
Chr2 | 0 | 0 | 2 | 2 | 0 | 2 | 0 | / | / | / | / |
Chr3 | 0 | 0 | 2 | 2 | 0 | 0 | 2 | 2 | 0 | 2 | 0 |
Chr4 | 0 | 1 | 2 | 3 | 1 | 2 | 0 | 1 | 0 | 0 | 1 |
Chr5 | 0 | 1 | 2 | 3 | 0 | 1 | 2 | 1 | 1 | 0 | 0 |
Chr6 | 0 | 1 | 0 | 1 | 0 | 1 | 0 | / | / | / | / |
Chr7 | 3 | 1 | 6 | 10 | 1 | 8 | 1 | 14 | 0 | 9 | 5 |
Chr8 | 1 | 1 | 4 | 6 | 0 | 1 | 5 | 5 | 0 | 3 | 2 |
Chr9 | 0 | 0 | 4 | 4 | 0 | 1 | 3 | 2 | 0 | 1 | 1 |
Chr10 | 0 | 0 | 3 | 3 | 0 | 3 | 0 | 1 | 0 | 0 | 1 |
Chr11 | 0 | 0 | 5 | 5 | 1 | 2 | 2 | 1 | 0 | 1 | 0 |
Chr12 | / | / | / | / | / | / | / | 1 | 0 | 1 | 0 |
Chr13 | 2 | 2 | 4 | 8 | 2 | 3 | 3 | / | / | / | / |
Chr14 | 0 | 0 | 2 | 2 | 1 | 1 | 0 | 3 | 0 | 2 | 1 |
Chr15 | 2 | 1 | 0 | 3 | 1 | 1 | 1 | 2 | 1 | 1 | 0 |
Chr16 | 2 | 0 | 1 | 3 | 0 | 3 | 0 | 4 | 0 | 4 | 0 |
Chr17 | 3 | 1 | 0 | 4 | 0 | 3 | 1 | / | / | / | / |
Chr18 | 4 | 2 | 7 | 13 | 4 | 3 | 6 | / | / | / | / |
Chr19 | / | / | / | / | / | / | / | / | / | / | / |
Chr20 | 0 | 1 | 2 | 3 | 0 | 0 | 3 | 5 | 1 | 3 | 1 |
Chr21 | 0 | 0 | 1 | 1 | 1 | 0 | 0 | / | / | / | |
Chr22 | 9 | 0 | 5 | 14 | 2 | 8 | 4 | 4 | 0 | 2 | 2 |
X or Y | 11 | 5 | 2 | 18 | 5 | 6 | 7 | / | / | / | 0 |
Total | 37 | 17 | 55 | 109 | 20 | 49 | 40 | 46 | 3 | 29 | 14 |