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Tabela 13 - Alterações raras comuns aos grupos 1 e 2 ou exclusivas de cada grupo, após comparação com o grupo de referência.
CNVs Raras Comuns G1 e G2
Região
Cromossômica
1p31.1
2p11.2
2p21
4q34.1
6p11.2
6p21.33
11q25
Casos Start End
Tamanho
(pb)
Grupo
Controle
Nº de
Sondas
Evento P valor Genes MicroRNA Presença
de CNVs
SM5 (G1) 72541243 72681514 140271 0 6 G 3,67E-19 - - ++
SM33 (G2) 72541243 72681514 140271 0 6 G 4,93E-15 - - ++
VCS (G1) 72541243 72681514 140271 0 6 G 6,61E-17 - - ++
SM44 (G1) 89387396 89902565 515169 1% 17 P 2,79E-26 - - ++
SM47 (G2) 89387396 89902565 515169 1% 17 P 6,11E-18 - - ++
SM88 (G2) 44026550 44089677 63127 0 5 G 9,13E-13 LRPPRC - +
SM98 (G1) 44026550 44089677 63127 0 5 G 1,39E-13 LRPPRC - +
SM4 (G1) 1,74E+08 1,74E+08 58319 0 6 G 1,38E-16 GALNTL6 - ++
SM7 (G2) 1,74E+08 1,74E+08 58319 0 6 G 1,50E-12 GALNTL6 - ++
SM83 (G1) 1,74E+08 1,74E+08 58319 0 6 G 4,76E-15 GALNTL6 - ++
LFS144 (G2) 1,74E+08 1,74E+08 58319 0 6 G 9,80E-15 GALNTL6 - ++
SM47 (G2) 57354689 57598026 243337 0 21 P 4,15E-18 PRIM2 - ++
SM56 (G1) 57354689 57598026 243337 0 21 P 2,43E-20 PRIM2 - ++
SM98 (G1) 57354689 57598026 243337 0 21 G 1,99E-18 PRIM2 - ++
SM7 (G2)1 29962649 29995447 32798 0 4 P 1,05E-24 HLA-H, HCG2P7 - ++
SM64 (G2) 29962649 29995447 32798 0 4 P 9,52E-18 HLA-H, HCG2P7 - ++
SM100 (G2) 29962649 29995447 32798 0 4 P 8,61E-15 HLA-H, HCG2P7 - ++
SM174 (G1) 29962649 29995447 32798 0 4 P 2,38E-13 HLA-H, HCG2P7 - ++
SM19 (G2) 1,34E+08 1,34E+08 358199 0 19 G 6,52E-26 - - ++
SL155 (G1) 1,34E+08 1,34E+08 358199 0 19 G 1,83E-33 - - ++
79