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Cont/ Tabela 13
CNVs Raras Exclusivas G1
Região
Cromossômica
Casos Start End
Tamanho
(pb)
Grupo
Controle
Nº de
Sondas
Evento P valor Genes MicroRNA Presença
de CNVs
1p31.1 SM4 72541243 72652273 111030 1% 5 G 3,34E-33 - - ++
1p31.1 VCS 76801602 77352325 550723 0 34 P 1,33E-83 ST6GALNAC3, ST6GALNAC5, PIGK - +
1p36.13 SM60 16887848 17104545 216697 0 6 P 4,02E-13 ESPNP, MSTP9 - ++
1p36.33 SM26 1217817 1436882 219065 0 4 G 1,90E-23
ACAP3, PUSL1, CPSF3L, GLTPD1,
TAS1R3, DVL1, MXRA8, AURKAIP1,
CCNL2, LOC148413, MRPL20,
LOC441869, TMEM88B, VWA1,
ATAD3C, ATAD3B
- ++
1q21.1 SM174 1,47E+08 1,48E+08 307655 1% 16 P 6,15E-21 LOC645166, LOC645166 - ++
1q25.1 SL167 1,74E+08 1,74E+08 278360 0 24 G 4,53E-56 TNR - +
2p11.2 - p11.1 SM174 89231429 91270511 2039082 0 29 P 6,84E-29 LOC654342 - ++
2q37.3 SM173 2,43E+08 2,43E+08 24323 1% 5 P 1,37E-19 - - ++
3p14.2 SM98 60461801 60832267 370466 0 31 P 2,64E-87 FHIT - ++
3p24.3 SM28 17702466 17733164 30698 1% 3 P 2,12E-14 TBC1D5 - -
3q25.1 SM28 1,53E+08 1,53E+08 51693 0 6 P 1,58E-13 LOC201651, AADAC - +
3q26.1 SL167 1,64E+08 1,64E+08 78674 0 5 G 1,48E-24 - - ++
5q11.2 SM98 55595250 55858437 263187 0 13 G 1,59E-14 - - +
6p21.32 SM65 32558477 32630048 71571 0 4 P 2,27E-20 HLA-DRB5, HLA-DRB6 - ++
6q14.1 SM60 78930685 79080188 149503 0 6 G 4,85E-14 - - ++
7p22.3 VCS 1234712 1275138 40426 0 4 G 4,67E-26 UNCX - ++
7q22.1 SM26 1E+08 1E+08 38749 0 4 G 3,10E-12 ACTL6B, GNB2, GIGYF1 - +
7q36.1 VCS 1,5E+08 1,5E+08 17053 0 3 G 7,03E-18 CDK5, SLC4A2 - +
8p22 SM98 15996182 16066256 70074 0 7 P 2,67E-27 MSR1 - ++
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