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. 2009 Feb 6;5(2):e1000373. doi: 10.1371/journal.pgen.1000373

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.