From: Characterization and identification of hidden rare variants in the human genome
Type | Total variants (GRCh37) | Class A | Class B | Class C | Total variants (GRCh38) | Class A | Class B | Class C |
---|---|---|---|---|---|---|---|---|
Total SNVs | 85111 | 17944 | 60714 | 6453 | 77274 | 11827 | 59055 | 6392 |
Intergenic | 40321 | 8004 | 29053 | 3264 | 36774 | 5465 | 28072 | 3237 |
Gencode | 44790 | 9940 | 31661 | 3189 | 40500 | 6362 | 30983 | 3155 |
Functional | 580 | 167 | 373 | 40 | 402 | 31 | 335 | 36 |
Pseudogenes | 734 | 135 | 518 | 81 | 633 | 68 | 487 | 78 |
Non coding RNA | 8628 | 2040 | 5965 | 623 | 7673 | 1229 | 5828 | 616 |
Encode Elements | 20438 | 4723 | 14138 | 1577 | 18458 | 3098 | 13811 | 1549 |
Total Insertions | 6700 | 1870 | 4616 | 214 | 17 | 5 | 10 | 2 |
Intergenic | 2912 | 751 | 2052 | 109 | 7 | 1 | 5 | 1 |
Gencode | 3788 | 1119 | 2564 | 105 | 10 | 4 | 5 | 1 |
Functional | 56 | 23 | 31 | 2 | 1 | 0 | 1 | 0 |
Pseudogenes | 61 | 14 | 44 | 3 | 1 | 0 | 0 | 1 |
Non coding RNA | 744 | 243 | 477 | 24 | 4 | 2 | 2 | 0 |
Encode Elements | 1744 | 569 | 1122 | 53 | 4 | 1 | 3 | 0 |
Total Deletions | 4462 | 1206 | 3095 | 161 | 3703 | 689 | 2857 | 157 |
Intergenic | 1869 | 504 | 1298 | 67 | 1523 | 290 | 1168 | 65 |
Gencode | 2593 | 702 | 1797 | 94 | 2180 | 399 | 1689 | 92 |
Functional | 24 | 8 | 15 | 1 | 9 | 1 | 7 | 1 |
Pseudogenes | 30 | 10 | 20 | 0 | 19 | 17 | 2 | 0 |
Non coding RNA | 486 | 137 | 333 | 16 | 392 | 64 | 312 | 16 |
Encode Elements | 1023 | 304 | 682 | 37 | 823 | 154 | 633 | 36 |