Table 1.
Disease-related CNVs observed in patients with COS
NSB ID | Chr. band | Start (hg18) | Stop (hg18) | Size (kb) | Type | Duplicated or deleted genes | Inheritance | Disease | Reported in 2008 |
---|---|---|---|---|---|---|---|---|---|
1358a | 2p25.3 | 1 591 064 | 1 836 375 | 245 | Dup | 2 | Mother | SCZ | Yes |
534a | 2p25.3 | 1 720 133 | 1 827 317 | 107 | Dup | 2 | Unknown | SCZ | Yes |
581 | 2p16.3 | 50 025 162 | 50 136 989 | 112 | Del | 2 | Unknown | SCZ, ASD | Yes |
534a | 8q11.2 | 53 550 992 | 54 043 684 | 493 | Dup | 3 | Unknown | ID | No |
885 | 10q22.3 | 81 415 378 | 81 588 866 | 173 | Del | 5 | De novo | ID | No |
448 | 15q11.2 | 18 818 086 | 20 203 694 | 1386 | Del | 24 | Unknown | SCZ, ID, Epi | No |
1358a | 15q11.2 | 20 203 694 | 20 778 963 | 575 | Del | 13 | Mother | SCZ, ID, Epi | No |
1546a | 15q13.3 | 30 238 780 | 30 620 951 | 382 | Del | 26 | De novo | SCZ, ASD, ID, Epi | No |
498 | 15q13.3 | 30 238 780 | 30 713 368 | 475 | Del | 30 | Mother | SCZ, ASD, ID, Epi | No |
481 | 16p12.1 | 21 498 074 | 21 946 841 | 449 | Del | 7 | Father | ID | No |
676a | 16p11.2 | 29 502 984 | 30 107 306 | 604 | Dup | 15 | Father | SCZ, ASD | Yes |
2011 | 16p11.2 | 29 782 436 | 30 227 808 | 445 | Dup | 34 | Father | SCZ, ASD | Yes |
1546a | 17q21.3 | 41 321 621 | 41 706 070 | 384 | Dup | 4 | Father | ID | No |
1275 | 22q11.2 | 17 092 563 | 20 077 678 | 2985 | Del | 49 | De novo | SCZ, ID | No |
1220 | 22q11.2 | 17 224 632 | 19 842 333 | 2618 | Del | 48 | De novo | SCZ, ID | No |
537 | 22q11.2 | 17 257 787 | 19 855 248 | 2597 | Del | 46 | Unknown | SCZ, ID | No |
1804 | 22q11.2 | 17 257 787 | 19 963 350 | 2706 | Del | 47 | De novo | SCZ, ID | No |
3169 | 22q11.2 | 17 269 794 | 20 128 199 | 2858 | Del | 55 | De novo | SCZ, ID | No |
676a | 22q13.3 | 47 903 228 | 49 557 485 | 1654 | Dup | 4 | De novo | ASD | No |
Abbreviations: ASD, autism spectrum disorders; COS, childhood onset schizophrenia; CNV, copy number variants; Epi, epilepsy; ID, intellectual disability; SCZ, schizophrenia.
Individuals with two events.