Table 1 Copy number variants (CNVs), larger than 100 kb, detected in a male patient with mental retardation and intractable epilepsy
From: Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy
Chr. | Cytoband | Size (kb) | Gain/loss | Start position (Hg 18) | End position (Hg 18) | % CNV overlap |
|---|---|---|---|---|---|---|
1 | q23.3–q23.3 | 142 | Gain | 159 763 524 | 159 905 125 | 100 |
4 | q13.2–q13.2 | 114 | Loss | 69 054 586 | 69 168 562 | 100 |
8 | p23.1–p23.1 | 610 | Gain | 7 237 778 | 7 847 304 | 100 |
8 | p11.23–p11.23 | 133 | Loss | 39 354 748 | 39 488 053 | 100 |
8 | q21.13–q21.13 | 212 | Loss | 83 306 931 | 83 519 284 | 28 |
9 | p11.2–p11.2 | 294 | Loss | 43 445 836 | 43 740 170 | 100 |
14 | q11.1–q11.2 | 632 | Loss | 18 860 343 | 19 492 423 | 100 |
15 | q14–q14 | 108 | Loss | 32 510 712 | 32 618 224 | 100 |
16 | p11.2–p11.2 | 497 | Loss | 32 066 096 | 32 563 012 | 100 |
16 | p11.2–p11.2 | 369 | Loss | 33 311 629 | 33 680 554 | 100 |
17 | q21.31–q21.32 | 404 | Gain | 41 703 504 | 42 107 467 | 100 |
19 | p12–p12 | 120 | Loss | 20 388 034 | 20 508 217 | 100 |
22 | q11.21–q11.21 | 238 | Gain | 19 937 072 | 20 175 282 | 100 |
X | p11.3–p11.3 | 504 | Gain | 43 290 667 | 43 794 205 | 0 |
X | q21.31–q21.31 | 230 | Gain | 88 352 639 | 88 583 010 | 0 |
Y | q11.221–q11.221 | 157 | Gain | 16 835 918 | 16 992 884 | 0 |
