Table 4. Published CNVs observed in our sample population.
| Cytoband | Literature CNVs | Region of Highest Significance | CNV Type | TaqMan Validation | Total Cases | Total Controls | OddsRatio | P Value | Cases | Controls | Gene/Region |
| 1q21.1 | chr1:146555186-147779086 | chr1:146656292-146707824 | Dup | NT | 1543 | 5761 | 7.48 | 1.15E-01 | 2 | 1 | FMO5 |
| 2p24.3 | chr2:13202218-13248445 | chr2:13203874-13209245 | Del | Validated (chr2:13203874-13209245) | 1544 | 5761 | ∞ | 2.11E-01 | 1 | 0 | upstream of LOC100506474 |
| 2p21 | chr2:45455651-45984915 | chr2:45489954-45492582 | Dup | NT | 1541 | 5756 | ∞ | 4.46E-02 | 2 | 0 | between UNQ6975 and SRBD1 |
| 2p16.3 | chr2:50145644-51259671 | chr2:51237767-51245359 | Del | NT | 1544 | 5762 | ∞ | 1.99E-03 | 4 | 0 | NRXN1 |
| 2p15 | chr2:62258231-63028717 | chr2:62230970-62367720 | Dup | NT | 1543 | 5762 | ∞ | 2.11E-01 | 1 | 0 | COMMD1 |
| 2q14.1 | chr2:115139568-115617934 | chr2:115133493-115140263 | Del | NT | 1543 | 5759 | 7.47 | 1.15E-01 | 2 | 1 | between LOC440900 and DPP10 |
| 3p26.3 | chr3:1940192-1940920 | chr3:1937796-1941004 | Del | Validated (chr3:1937796-1942764) | 1544 | 5760 | 5.60 | 6.70E-02 | 3 | 2 | between CNTN6 and CNTN4 |
| 3p14.1 | chr3:67656832-68957204 | chr3:67657429-68962928 | Del | NT | 1544 | 5762 | ∞ | 2.11E-01 | 1 | 0 | SUCLG2, FAM19A4, FAM19A1 |
| 4q13.3 | chr4:73756500-73905356 | chr4:73766964-73816870 | Dup | Validated (chr4:73753294-74058988) | 1544 | 5760 | ∞ | 2.11E-01 | 1 | 0 | COX18, ANKRD17 |
| 4q33 | chr4:154087652-172339893 | chr4:171366005-171471530 | Del | NT | 1543 | 5761 | ∞ | 4.46E-02 | 2 | 0 | between AADAT and HSP90AA6P |
| 5q23.1 | chr5:118478541-118584821 | chr5:118527524-118589485 | Dup | Validated (chr5:118527524-118614781) | 1541 | 5760 | 3.74 | 1.98E-01 | 2 | 2 | DMXL1, TNFAIP8 |
| 6p21.2 | chr6:39071841-39082863 | chr6:39069291-39072241 | Del | Validated (chr6:39069291-39072241) | 1544 | 5759 | 2.37 | 1.93E-02 | 12 | 19 | SAYSD1 |
| 8q11.23 | chr8:54858496-54907579 | chr8:54855680-54912001 | Dup | Validated (chr8:54855680-54912001) | 1544 | 5762 | ∞ | 2.11E-01 | 1 | 0 | RGS20, TCEA1 |
| 10q11.22 | chr10:46269076-50892143 | chr10:49370090-49471091 | Dup | NT | 1528 | 5750 | 3.77 | 1.96E-01 | 2 | 2 | FRMPD2P1, FRMPD2 |
| 10q11.23 | chr10:50892146-51450787 | chr10:50884949-50943185 | Dup | NT | 1542 | 5760 | 3.74 | 1.98E-01 | 2 | 2 | OGDHL, C10orf53 |
| 12q13.13 | chr12:53183470-53189890 | chr12:53177144-53180552 | Del | Validated (chr12:53177144-53182177) | 1544 | 5762 | ∞ | 4.46E-02 | 2 | 0 | between KRT76 and KRT3 |
| 15q11.1 | chr15:20266959-25480660 | chr15:20192970-20197164 | Dup | Validated (chr15:20192970-20212798) | 1515 | 5632 | 4.97 | 4.06E-02 | 4 | 3 | downstream of HERC2P3 |
| 15q11.2 | chr15:20266959-25480660 | chr15:25099351-25102073 | Del | NT | 1540 | 5761 | 3.75 | 1.13E-01 | 3 | 3 | SNRPN |
| 15q11.2 | chr15:20266959-25480660 | chr15:25099351-25102073 | Dup | NT | 1541 | 5759 | 45.19 | 7.93E-08 | 12 | 1 | SNRPN |
| 15q11.2 | chr15:25582397-25684125 | chr15:25579767-25581658 | Dup* | Validated (chr15:25576642-25581880) | 1540 | 5761 | ∞ | 3.86E-06 | 8 | 0 | between SNORD109A and UBE3A |
| 15q11.2 | chr15:25582397-25684125 | chr15:25582882-25662988 | Dup* | NT | 1540 | 5762 | 30.08 | 2.82E-05 | 8 | 1 | UBE3A |
| 16p12.2 | chr16:21901310-22703860 | chr16:21958486-22172866 | Dup | NT | 1544 | 5761 | ∞ | 4.47E-02 | 2 | 0 | C16orf52, UQCRC2, PDZD9, VWA3A |
| 16p11.2 | chr16:29671216-30173786 | chr16:29664753-30177298 | Del | NT | 1544 | 5761 | 7.47 | 1.15E-01 | 2 | 1 | DOC2A, ASPHD1, LOC440356, TBX6, LOC100271831, PRRT2, CDIPT, QPRT, YPEL3, PPP4C, MAPK3, SPN, MVP, FAM57B, ZG16, ALDOA, INO80E, SEZ6L2, TAOK2, KCTD13, MAZ, KIF22, GDPD3, C16orf92, C16orf53, TMEM219, C16orf54, HIRIP3 |
| 16q23.3 | chr16:82195236-82722082 | chr16:82423855-82445055 | Dup | NT | 1542 | 5758 | ∞ | 4.46E-02 | 2 | 0 | between MPHOSPH6 and CDH13 |
| 17p12 | chr17:14139846-15282723 | chr17:14132271-14133349 | Dup | Validated (chr17:14132271-14133568) | 1544 | 5762 | 1.60 | 3.57E-01 | 3 | 7 | between COX10 and CDRT15 |
| 17p12 | chr17:14139846-15282723 | chr17:14132271-15282708 | Del | NT | 1544 | 5761 | 5.61 | 6.70E-02 | 3 | 2 | PMP22, CDRT15, TEKT3, MGC12916, CDRT7, HS3ST3B1 |
| 17p12 | chr17:14139846-15282723 | chr17:14952999-15053648 | Dup | NT | 1543 | 5760 | 3.74 | 1.98E-01 | 2 | 2 | between CDRT7 and PMP22 |
| 17p12 | chr17:14139846-15282723 | chr17:15283960-15287134 | Del | Validated (chr17:15283960-15287134) | 1544 | 5761 | 3.74 | 1.13E-01 | 3 | 3 | between TEKT3 and FAM18B2-CDRT4 |
| 20p12.3 | chr20:8044044-8527513 | chr20:8162278-8313229 | Dup | NT | 1544 | 5761 | 3.73 | 1.98E-01 | 2 | 2 | PLCB1 |
| Xp21.2 | chrX:28605682-29974014 | chrX:29944502-29987870 | Dup | NT | 1544 | 5760 | ∞ | 4.47E-02 | 2 | 0 | IL1RAPL1 |
| Xq27.2 | chrX:139998330-140443613 | chrX:140329633-140348506 | Del | Validated (chrX:140329633-140456325) | 1544 | 5762 | 7.48 | 2.06E-02 | 4 | 2 | SPANXC |
| Xq28 | chrX:148858522-149097275 | chrX:148882559-148886166 | Del | Validated (chrX:148882559-149020410) | 1540 | 5754 | ∞ | 4.46E-02 | 2 | 0 | MAGEA8 |
*
Denotes CNVs contiguous with the chromosome 15q11.2–13.1 CNV shown in Table 3.