Table 1.
Distribution of candidate novel variants across different regions of interest
| All variants | Novel variant candidates | |
|---|---|---|
| Total | 2,923,556 | 14,118 |
| Gencode v27 (ALL) | 1,483,947 | 5,093 |
| Gencode v27 exome | 92,268 | 321 |
| Repeat Masker | 1,592,193 | 9,954 |
| LINEs | 687,989 | 4,808 |
| SINEs | 335,181 | 953 |
| Segmental duplications | 161,588 | 4,838 |
| Tandem repeats | 104,753 | 5,944 |
| Centromeres | 1,037 | 28 |
| Telomeres | 0 | 0 |
All variants refers to the variants in the Long Read Variants set, and Novel Variant Candidates are those described in “Candidate novel variants” section