Table 2.

Colocalization of chromosomal breakpoints and structural variants in the genome

BP IDCytobandBreakpoint startBreakpoint stopCNV locus IDSegmental duplicationsInterchromosomal/intrachromosomalPatient ID (CC-P no.)Genes mapping to the breakpoint
1.11p36.331,594,5021,686,1410003DC0021, DC0022Intra14SSU72, CDC2L2
1.21p35.231,435,12931,444,435005314WDR57, ZCCHC17
1.31p13.2–1p13.1113,299,763113,313,396014156
1.41p11.2–1p12120,357,104120,525,0020144DC0153, DC0154Intra10, 11, 16, 42
1.51q12120,961,845141,468,2050145DC0165Intra20
1.61q21.1–1q12143,526,765143,543,5800146DC0185Intra1, 44, 53, 56, 71NBPF11
1.71q21.1–1q12145,338,927145,359,8050148DC0206Inter1NBPF15
1.81q21.1146,599,106146,628,2180148DC0218Inter1HIST2H4, H2BE, HIST2H3C
1.91q23.1154,677,866154,699,522DC0238Inter1
2.12p25.18,053,0908,078,648027865LOC339789
2.22p13.173,638,38473,655,615035414ALMS1
2.32q34211,358,859211,368,37304858CPS1
3.13p24.320,205,87420,219,511054448
3.23p14.260,979,54960,993,090059753FHIT
3.33p12.374,382,59074,402,45806129CNTN3
3.43q11.295,112,76695,126,868DC0913Intra47PROS1
3.53q13.11105,937,188105,980,769063942
3.63q13.33121,044,859121,064,11606588GSK3B
4.14p15.3120,205,99520,212,010078416SLIT2
4.24q13.269,310,01769,319,7070867DC1229Intra24
4.34q13.371,229,59571,238,96808699
4.44q22.394,893,24394,904,63509069GRID2
4.54q35.1184,012,774184,022,817105120
5.15p14.320,507,73420,530,98710908
5.25p14.320,507,73420,530,987109019, 24
5.35p1245,125,70445,157,897111614
5.45q21.199,432,47299,447,4961183DC1732, DC1733Inter, Intra51
5.55q21.1100,703,233100,734,459118424
5.65q23.1115,529,614115,544,817120342COMMD10
5.75q33.2153,090,806153,106,089124214GRIA1
5.85q34165,144,873165,198,31712518
6.16p21.33–6p22.129,949,86429,967,1141311DC1955Intra20
6.26p21.3330,085,93130,095,973DC1958Intra23
6.36p21.146,134,33146,141,98113308
6.46q1265,074,13065,145,20813538, 20
6.56q1373,616,91773,628,301136923KCNQ5
6.66q25.1149,905,776149,946,488DC2020Intra48C6orf72, PPIL4
7.17p21.37,153,5397,187,74014911, 47C1GALT1
7.27p11.255,572,23355,593,091DC2177Inter47, 48
7.37q11.2162,195,03762,271,2521558DC2233Inter65
7.47q11.2376,397,78976,426,0651572DC2356, DC2357Intra20, 48KIAA1505
7.57q21.397,132,79297,132,8221596DC2371Inter48ASNS
7.67q22.1101,837,056101,878,0891604DC2398, DC2399Intra, Inter48RASA4, POLR2J2
7.77q22.1101,914,350101,929,2411604DC2399Inter1, 20
7.87q32.2130,012,776130,017,714164242
8.18p23.17,709,1417,735,3651691DC2508Inter48DEFB106A, DEFB104A, DEFB105A,
8.28p2212,916,57412,922,059169872FLJ36980, KIAA1456
8.38p2216,642,93116,684,703170448
8.48p11.23–8p1238,471,87538,487,158173365
8.58p11.22–8p11.2339,356,59539,369,68617349, 51, 65ADAM18
8.68q11.147,658,70647,680,223174210
8.78q11.2151,143,04151,151,309174910SNTG1
8.88q22.193,686,21393,707,35518111
9.19p21.130,929,34430,963,839193114
9.29p13.138,758,23238,799,0721944DC2781, 2806, 2807Intra, Inter8, 9, 12, 42, 47, 71
9.39q1268,141,95668,151,3591945DC2382Inter8, 12, 14KGFLP1, FOXD4L3
9.49q21.33–9q22.187,362,04587,376,11919608DAPK1
9.59q31.1104,443,646104,448,71319808OR13C2
10.110p11.2137,523,20737,536,4502086DC3033Inter71ANKRD30A
10.210p11.2137,561,20537,573,67520868ANKRD30A
10.310q11.2142,066,86642,097,7732093DC3061, DC6062Inter71
10.410q11.2142,676,34742,724,1712093DC3077, DC3078Inter8
10.510q11.2245,489,35245,507,8802095DC3091Intra14, 49
10.610q21.158,591,32358,643,17721118
10.710q21.366,455,83766,527,887212414
11.111p15.51,341,5571,478,016220138HCCA2, BRSK2
11.211p15.43,625,6833,638,563220438ART1
11.311q24.2124,745,557124,758,01523498PKNOX2
12.112p13.318,908,3488,909,37323708
12.212p13.211,040,94611,045,834237442TAS2R49
12.312p13.211,113,17611,274,3742374DC3675Intra45TAS2R46, TAS2R43, TAS2R44
12.412q13.1147,046,66347,074,456241849
13.113q12.1121,020,53021,029,004254020EFHA1
13.213q21.3162,773,02962,811,083257865
13.313q21.3370,415,09570,460,603259047
13.413q31.389,088,60589,156,716261523
13.513q33.3108,193,190108,202,800263147RP11-54H7.1
13.613q34111,053,779111,083,506263347
14.114q11.220,923,48420,941,004264142CHD8
14.214q21.138,759,88638,773,059266819MIA2
14.314q21.140,612,28040,647,692267151
14.414q21.243,688,55043,723,21926769
14.514q32.33105,881,961105,902,38327479KIAA0125
15.115q21.143,050,88043,057,6652772DC3877Intra53C15ORF43
16.116p13.35,085,2105,132,5532870DC3528Inter20FAM86A
16.216p12.122,578,17322,625,780289345, 65
16.316p11.228,141,53928,154,008289920
16.416p11.232,181,81032,206,3732905DC3586Inter14
16.516q1356,228,73156,242,451292447GPR56
16.616q22.168,534,40868,575,8592935DC3625Inter45LOC348174
16.716q22.373,128,53573,148,9052940DC3635Intra45GLG1
17.117p11.217,935,14617,945,526299871DRG2
17.217p11.218,823,70018,845,631300151SLC5A10
17.317p11.221,471,89721,627,5963005DC3225, DC3226, DC3227Inter10, 48, 72
17.417p11.222,324,32622,367,3023006DC3241, DC3242, DC3243Intra, Inter1, 16, 20, 24, 42, 45, 53, 56, 71
17.517q21.235,991,94136,017,353302056
17.617q21.237,142,50737,148,208302156HAP1
18.118p11.2114,968,07515,042,8393109DC2923, DC2924, DC2925Inter1
18.218q11.218,905,06818,910,92231121
19.119q13.1242,671,30442,678,874325242
19.219q13.3253,178,40353,192,305327171ELSPBP1
20.120p1398,836111,637329447
20.220p131,546,8581,557,784330047SIRPB1
20.320p12.114,802,98614,816,75133279, 44C20orf133
20.420p12.115,234,45015,249,88233301, 9, 47C20orf133
20.520p11.2222,297,09622,316,323334765
20.620p11.126,023,78426,096,8703352DC2471, DC2472Inter10, 42, 49
20.720q11.128,209,78628,225,1173353DC2479, DC2480Inter12, 14, 16, 20, 44, 48, 53, 71
20.820q13.3358,950,61659,000,615341439
20.920q13.3362,234,27262,235,717341939
21.121q21.121,148,68721,166,248343044NCAM2
21.221q21.224,275,09424,312,332343514
X.1Xp11.2252,775,98652,782,545DC1465Intra42GAGED4
X.2Xq21.3191,052,97591,151,194DC1550, DC1551Inter71PCDH11X
X.3Xq22.1101,404,534101,556,005DC1569Intra8NXF2