Table 4. All CNVs greater than 2 Mb.
Chr | start | end | SNPs | length | state | start SNP | end SNP | Status | Cohort | Notes |
1 | 144106312 | 146293282 | 260 | 2,186,971 | del | rs10797649 | rs2932454 | case | Aberdeen | This deletion has been found in other schizophrenia samples [22],[24]. A 1.4 Mb deletion was also found in the US cohort at the same location (chr1:144838594–146293282). |
1 | 144106312 | 146292286 | 259 | 2,185,975 | del | rs10797649 | rs2999617 | case | Aberdeen | |
8 | 15098795 | 18360001 | 536 | 3,261,207 | del | rs12680924 | rs7000897 | case | Munich | Includes TUSC3, associated with mental retardation [47] , PCM1, which has been associated with schizophrenia [48] , ASAH1, whose deficiency results in mental retardation [49] and NAT1 and NAT2 which have been implicated in schizophrenia. |
16 | 15387380 | 18072544 | 491 | 2,685,165 | del | rs251633 | rs9284326 | case | Aberdeen | Includes NDE1, which interacts with DISC1 to control neurodevelopmental processes [25] , [34] . |
22 | 16389909 | 19792353 | 668 | 3,402,445 | del | rs174330 | rs140392 | case | Aberdeen | Region implicated in schizophrenia in multiple studies. |
22 | 17257787 | 19792353 | 496 | 2,534,567 | del | rs2543958 | rs140392 | case | Aberdeen | |
22 | 17257787 | 19792353 | 496 | 2,534,567 | del | rs2543958 | rs140392 | case | Aberdeen | |
22 | 17257787 | 19792353 | 496 | 2,534,567 | del | rs2543958 | rs140392 | case | Aberdeen | |
1 | 185089907 | 187703805 | 220 | 2,613,899 | dup | rs2076075 | rs3860306 | case | Munich | PLA2G4A is the only gene affected by this event. This gene has previously been implicated in schizophrenia [63]. |
2 | 106190084 | 109173575* | 455 | 2,983,492 | dup | rs13006272 | rs11893469 | case | Aberdeen | Includes many genes, none previously implicated in schizophrenia. |
4 | 96866611 | 99167973 | 156 | 2,301,363 | dup | rs2865703 | rs783919 | case | Munich | PDHA2 in region, not good candidate gene. |
4 | 179888441 | 182314469** | 567 | 2,426,029 | dup | rs436324 | rs12503294 | control | US | No genes in region |
5 | 37621606 | 39730156 | 490 | 2,108,551 | dup | rs665327 | rs1499238 | control | Aberdeen | Includes many genes, including good schizophrenia candidates, e.g. GDNF. However subject is unaffected. |
13 | 79334893 | 81402686 | 381 | 2,067,794 | dup | rs6563141 | rs9531267 | case | Aberdeen | Includes SPRY2, which shows decreased expression in brains of schizophrenia patients[64]. |
15 | 21240037 | 26208861 | 556 | 4,968,825 | dup | rs4778531 | rs1635168 | case | Munich | Includes many genes, notably GABRA3 and GABRA5, overlaps with larger duplication found in US cohort. |
15 | 21260328 | 30302218*** | 1600 | 9,041,890 | dup | rs17118751 | rs4779984 | case | US | Overlaps both with duplication in Munich cohort and also region of previously reported schizophrenia-associated 1.4 Mb duplication encompassing APBA2 [40]. |
22 | 17343340 | 19792353 | 347 | 2,449,014 | dup | rs2019061 | rs140392 | control | Munich | Same region deleted in cases. A 1.5 Mb duplication was also seen in a US case (chr22:17257787–18719310) |
*: Inspection in BeadStudio indicates that this duplication is actually 4.06 Mb, extending from chr2: 106282170–110339905.
**: Inspection in BeadStudio indicates that this duplication is actually 2.91 Mb, extending to chr4: 182,802,687.
***: Inspection in BeadStudio indicates that this duplication is actually 9.41 Mb, extending to chr15: 30,544,756.