From: Copy number variations in the genome of the Qatari population
 |  | Total number | Nongenic | Genic | miRNA | Genic affecting Mendelian disease genes | # Mendelian genes affected | Overlap DGV | Novel | Novel genic | Promoter site | Transcription factor binding site |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Q1 – |  0 – homozygous deletions | 341 | 228 | 113 | 2 | 8 | 8 | 322 | 19 | 7 | 20 | 127 |
 |  1 – heterozygous deletions | 3,316 | 2,151 | 1,165 | 19 | 76 | 83 | 3,091 | 225 | 97 | 248 | 1,321 |
 |  3 – duplication | 2,161 | 1,121 | 1,040 | 196 | 182 | 223 | 2,045 | 116 | 48 | 509 | 980 |
 |  4 – amplification | 463 | 290 | 173 | 12 | 18 | 18 | 445 | 18 | 5 | 54 | 145 |
Sub-total Q1 | 6,281 | 3,790 | 2,491 | 229 | 284 | 332 | 5,903 | 378 | 157 | 831 | 2,573 | |
Q2 – |  0 – homozygous deletions | 293 | 183 | 110 | 1 | 11 | 11 | 287 | 6 | 1 | 14 | 109 |
 |  1 – heterozygous deletions | 2,470 | 1,598 | 872 | 15 | 65 | 70 | 2,350 | 120 | 53 | 172 | 879 |
 |  3 – duplication | 1,760 | 913 | 847 | 156 | 124 | 157 | 1,694 | 66 | 28 | 409 | 748 |
 |  4 – amplification | 434 | 268 | 166 | 11 | 17 | 17 | 422 | 12 | 5 | 52 | 143 |
Sub-total Q2 | 4,957 | 2,962 | 1,995 | 183 | 217 | 255 | 4,753 | 204 | 87 | 647 | 1,879 | |
Q3 – |  0 – homozygous deletions | 267 | 174 | 93 | 0 | 18 | 8 | 262 | 5 | 2 | 16 | 101 |
 |  1 – heterozygous deletions | 2,858 | 1,902 | 956 | 13 | 61 | 65 | 2,726 | 132 | 45 | 176 | 1,046 |
 |  3 – duplication | 1,835 | 977 | 858 | 148 | 122 | 141 | 1,754 | 81 | 29 | 407 | 772 |
 |  4 – amplification | 462 | 284 | 178 | 19 | 23 | 24 | 443 | 19 | 9 | 61 | 146 |
Sub-total Q3 | 5,422 | 3,337 | 2,085 | 180 | 224 | 238 | 5,185 | 237 | 85 | 660 | 2,065 | |
Total | 16,660 | 10,089 | 6,571 | 592 | 725 | 825 | 15,841 | 819 | 329 | 2,138 | 6,517 |