|
| DBN | Locus/loci | CNV | Start | End | Size | Genes | Gene details/disease |
|
| 18 | 22q11.22 | 3 | 22901370 | 23307965 | 0.4 | 7 | PRAME, LOC648691, POM121L1P, GGTLC2, MIR650, IGLL5; hsa-mir-650 |
| 7q11.21 | 1 | 64651296 | 65148399 | 0.49 | 3 | INTS4L1, ZNF92, INTS4L2 (cutis marmorata, epicanthus, everted lower lip vermilion, intellectual disability, microcephaly, retinoblastoma, short nasal septum, and thick lower lip vermilion) |
|
| 20 | 1q21.2 | 3 | 147828939 | 149723885 | 1.9 | 18 | 2-3-toe syndactyly, abnormality of the helix, aplasia cutis congenita over the scalp vertex, attention deficit hyperactivity disorder, clinodactyly of the 5th finger, facial asymmetry, flat occiput, gait ataxia, global developmental delay, hyperpigmentation of the skin, hypoplastic areola, long eyelashes, microcephaly, muscular hypotonia, pointed chin, short 3rd toe, short neck, short stature, skull asymmetry, and walking on tiptoes
FLJ39739; PPIAL4B; PPIAL4A; NBPF14; PPIAL4F; NBPF15; NBPF15; NBPF16; PPIAL4E; NBPF16; PPIAL4F; LOC645166; LOC645166; LOC388692; FCGR1C; HIST2H2BF; PPIAL4B; LOC728855 |
|
| 46 | 19p13.11
p12 p11 | 3 | 19863014 | 24556461 | 4.6 | 35 | LOC284440; ZNF506; ZNF253; ZNF93; ZNF682; ZNF90; ZNF486; LOC284441; ZNF826; ZNF737; ZNF626; ZNF626; ZNF85; ZNF430; ZNF714; ZNF431; ZNF708; ZNF738; ZNF493; ZNF429; ZNF100; LOC641367; ZNF43; ZNF208; ZNF257; ZNF676; ZNF98; ZNF492; ZNF99; ZNF91; ZNF675; ZNF681; RPSAP58; ZNF254; LOC100101266 |
11p11.2
p11.12 | 3 | 48359268 | 51530241 | 3.1 | 10 | OR4C45; OR4A47; FOLH1; LOC440040; OR4C13; OR4C12; LOC441601; LOC646813; OR4A5; OR4C46 |
|
| 49 | 1q31.3 | 4 | 193973521 | 197781198 | 3.8 | 13 | KCNT2; CFH; CFHR3; CFHR1; CFHR4; CFHR2; CFHR5; F13B; ASPM; ZBTB41; CRB1; DENND1B; DENND1B |
| Xq21.1-q22.1 | 2 | 80368850 | 99441815 | 19 | 27 | HMGN5; SH3BGRL; POU3F4; CYLC1; RPS6KA6; HDX; UBE2DNL; APOOL; SATL1; ZNF711; POF1B; CHM; CHM; DACH2; DACH2; KLHL4; CPXCR1; TGIF2LX; PABPC5; PCDH11X; PCDH11X; PCDH11X; NAP1L3; FAM133A; LOC643486; DIAPH2; RPA4; LOC442459 |
| Xq23 q24 | 2 | 112244679 | 117105172 | 4.8 | 18 | HTR2C; SNORA35; MIR764; MIR1912; MIR1264; MIR1298; MIR1911; MIR448; IL13RA2; LRCH2; RBMXL3; LUZP4; PLS3; PLS3; AGTR2; SLC6A14; CXorf61; KLHL13 |
| Xq27.2-q28 | 2 | 141247401 | 148041505 | 6.7 | 36 | MAGEC2; SPANXN4; SPANXN3; SLITRK4; SPANXN2; UBE2NL; SPANXN1; SLITRK2; SLITRK2; CXorf1; MIR890; MIR888; MIR892A; MIR892B; MIR891B; MIR891A; CXorf51; CXorf51; MIR506; MIR507; MIR508; MIR509-2; MIR509-3; MIR509-3; MIR509-1; MIR509-2; MIR509-3; MIR510; MIR514-1; MIR514-3; MIR514-3; ASFMR1; FMR1; FMR1NB; AFF2; AFF2 |
|
| 51 | 1q21.1 | 3 | 144007842 | 145384225 | 1.3 | 12 | LOC728855; LOC728875; PPIAL4B; PPIAL4A; LOC728875; COAS3; NBPF20; PDE4DIP; PDE4DIP; PDE4DIP; SEC22B; NOTCH2NL; NBPF10 |
| Xp22.33 | 2 | 449065 | 1705775 | 1.2 | 10 | SHOX; CRLF2; CRLF2; CSF2RA; CSF2RA; IL3RA; SLC25A6; PP1164; ASMTL; P2RY8 |
|
| 71 | 15q11.2 | 1 | 20482360 | 22754322 | 2.2 | 19 | CYFIP1; CYFIP1; p; WHAMML1; GOLGA9P; HERC2P2; GOLGA8E; MKRN3; MAGEL2; NDN; PWRN2; PWRN1; C15orf2; SNRPN; SNRPN; SNURF; SNURF |
| 10q11.22 | 3 | 46167847 | 48338944 | 2.1 | 23 | BMS1P1; FAM35B; SYT15; SYT15; GPRIN2; PPYR1; LOC728643; ANXA8; ANXA8L1; FAM25C; LOC642826; FAM35B2; ANTXRL; ANXA8L2; FAM21B; LOC642826; FAM25G; ANXA8; ANXA8L1; ZNF488; RBP3; GDF2; GDF10 |
|
| 197 | 1q21.1 | 3 | 144943150 | 146916824 | 1.9 | 24 | PDZK1; GPR89A; GPR89C; PDZK1; LOC200030; NBPF11; LOC728989; PRKAB2; PDIA3P; FMO5; FMO5; CHD1L; BCL9; ACP6; GJA5; GJA8; GPR89B; GPR89C; PDZK1; LOC200030; NBPF11; FLJ39739; PPIAL4B; PPIAL4A; NBPF14; PPIAL4F; NBPF15; NBPF15; NBPF16; PPIAL4E; NBPF16; PPIAL4F; LOC645166; LOC645166 |
|
| 204 | 22q11.23 | 3 | 23980648 | 24240879 | 0.26 | 2 | IGLL3; LRP5L (downslanted palpebral fissures, long palpebral fissure, moderate global developmental delay, short upturned nose, and wide nasal bridge) |
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