Table 2.
Characteristics of CNVs detected using microarray data in the ADNI sample.
| CNV size ranges |
Homozygous deletions | Heterozygous deletions | Duplications | High copy gain | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CTRL | MCI | AD | Total | CTRL | MCI | AD | Total | CTRL | MCI | AD | Total | CTRL | MCI | AD | Total | ||
| 0–20 kb | Number of CNV detected | 41 | 96 | 33 | 170 | 46 | 72 | 33 | 151 | 2 | 18 | 6 | 26 | 1 | 1 | – | 2 |
| Mean CNV size kb (SD) | 11,382 (4807) | 10,522 (4206) | 11,130 (3797) | 10,847 (4277) | 14,560 (3116) | 14,249 (3220) | 14,235 (3534) | 14,341 (3241) | 15,439 (2099) | 15,496 (2880) | 16,244 (3004) | 15,664 (2780) | 16,054 (0) | 16,054 (0) | – | 16,054 | |
| 20–100 kb | Number of CNV detected | 120 | 170 | 77 | 367 | 468 | 777 | 369 | 1614 | 91 | 199 | 84 | 374 | 0 | 1 | – | 1 |
| Mean CNV size kb (SD) | 45,912 (20,436) | 47,134 (21,647) | 44,442 (20,671) | 46,169 (21,023) | 62,431 (22,446) | 63,201 (21,922) | 62,080 (21,978) | 62,721 (22,079) | 58,457 (18,978) | 58,685 (22,608) | 59,282 (22,812) | 58,764 (21,774) | – | 46,259 (0) | – | 46,259 | |
| 100 kb–450 kb | Number of CNV detected | 77 | 127 | 64 | 268 | 1092 | 2084 | 915 | 4091 | 212 | 380 | 168 | 760 | 2 | 0 | – | 2 |
| Mean CNV size kb (SD) | 153,417 (47,905) | 153,644 (40,175) | 156,993 (40,218) | 154,379 (42,412) | 255,886 (116,761) | 263,490 (117,022) | 262,689 (116,642) | 261,281 (116,884) | 242,418 (106,611) | 248,233 (103,951) | 238,330 (102,066) | 244,422 (104,231) | 148,958 (32,608) | – | – | 148,958 (32,608) | |
| 450 kb–2 Mb | Number of CNV detected | 0 | 1 | 0 | 1 | 473 | 1001 | 432 | 1906 | 99 | 162 | 89 | 350 | – | – | – | – |
| Mean CNV size kb (SD) | – | 527,566 (0) | – | 527,566 (0) | 873,373 (353,832) | 913,183 (386,963) | 875,095 (356,450) | 894,671 (372,491) | 857,426 (306,587) | 881,915 (344,363) | 866,698 (316,327) | 871,119 (326,257) | – | – | – | – | |
| 2 Mb–10 Mb | Number of CNV detected | – | – | – | – | 100 | 445 | 72 | 617 | 1 | 9 | 3 | 13 | – | – | – | – |
| Mean CNV size kb (SD) | – | – | – | – | 3,487,306 (1,616,961) | 4,223,484 (1,933,931) | 3,641,255 (1,812,325) | 4,036,226 (1,893,946) | 2,268,253 (0) | 2,673,911 (539,851) | 2,948,826 (642,019) | 2,706,148 (542,653) | – | – | – | – | |
| > 10 Mb | Number of CNV detected | – | – | – | – | 6 | 46 | 12 | 64 | – | – | – | – | – | – | – | – |
| Mean CNV size kb (SD) | – | – | – | – | 13,032,082 (3,996,942) | 13,562,461 (9,103,163) | 14,729,801 (5,023,062) | 13,731,614 (8,069,805) | – | – | – | – | – | – | – | – | |
| All | Number of CNV detected | 238 | 394 | 174 | 806 | 2185 | 4425 | 1833 | 8443 | 405 | 768 | 350 | 1523 | 3 | 2 | 5 | |
| Mean CNV size kb (SD) | 74,744 (63,843) | 73,764 (67,772) | 79,522 (66,631) | 75,297 (66,344) | 526,015 (1,065,102) | 907,721 (2,088,887) | 589,584 (1,458,033) | 739,869 (1,752,991) | 355,300 (356,042) | 355,757 (431,596) | 374,569 (431,851) | 359,958 (412,733) | 104,656 (80,121) | 31,156 (21,358) | 75,256 (70,317) | ||