Riboflavin CNV Data


Gene SymbolChromosomeStartEndNameStrandVariation TypePMIDMethodSample SizeObserver GainObserved Loss
D2HGDHchr2242703552242743943esv3893578+loss25118596SNP array301703
D2HGDHchr2242704671242707042esv23937+gain19812545Oligo aCGH40210
D2HGDHchr2242704698242707400nsv1072091+deletion25765185Sequencing101
D2HGDHchr2242704721242706885esv3561319+deletion23714750Sequencing76701
D2HGDHchr2242704761242706987esv988977+gain20482838Oligo aCGH, Sequencing, SNP array310
D2HGDHchr2242704788242710079dgv7395n54+loss21841781Oligo aCGH, SNP array1742102
D2HGDHchr2242704788242706838nsv584978+gain+loss21841781Oligo aCGH, SNP array1742123
D2HGDHchr2242704788242706118nsv584977+loss21841781Oligo aCGH, SNP array1742101
D2HGDHchr2242704897242706962nsv513026+loss21212237Sequencing, SNP array101
D2HGDHchr2242704899242706800nsv1136320+deletion24896259Sequencing201
D2HGDHchr2242705005242706838nsv584981+loss21841781Oligo aCGH, SNP array1742101
D2HGDHchr2242705599242707000nsv1143974+deletion24896259Sequencing201
DHCRchr15486981555353370nsv546266+gain21841781Oligo aCGH, SNP array1742110
DHCRchr15486981555353370nsv461561+gain19166990Oligo aCGH, SNP array155710
DHCRchr15504653456201024nsv817614+gain22305530SNP array610
DHCRchr15529461255458363nsv829915+gain17160897BAC aCGH9510
DHCRchr15532878255334833esv3577874+loss25503493SNP array87301
DHCRchr15533414255334563esv2078805+deletion18987734Sequencing101
DHCRchr15533423955334520esv2748375+deletion23290073Sequencing9602
DHCRchr15533433655334389nsv1133854+deletion24896259Sequencing202
DHCRchr15533433655334389esv3562192+deletion23714750Sequencing76701
DHCRchr15533433655334388esv995636+deletion20482838Oligo aCGH, Sequencing, SNP array301
DHCRchr15533434155334442esv2748386+deletion23290073Sequencing9601
DHCRchr15533434355334396esv1764339+deletion17803354Merging, Oligo aCGH, Sequencing, SNP array201
DHCRchr15533860955338747esv6509+gain19470904Sequencing100
DHCRchr15534192255343586esv3586104+loss21293372Sequencing25040167
DHCRchr15534215455343389esv2676460+deletion23128226Merging, Oligo aCGH, PCR, Sequencing, SNP array1151034
DHCRchr15534222355343377esv3586105+loss21293372Sequencing25040168
DHODHchr167015878174428506nsv7285+inversion18451855FISH, Multiple complete digestion, Oligo aCGH, Sequencing900
DHODHchr167192214372082886nsv1055854+loss25217958Oligo aCGH, SNP array2908401
DHODHchr167197180472152854nsv833273+loss17160897BAC aCGH9501
DHODHchr167197634372274347nsv428329+gain18775914BAC aCGH, FISH, PCR6270
DHODHchr167197634372274347esv2758654+gain17122850BAC aCGH, SNP array270200
DHODHchr167198472172185844esv2714683+deletion23290073Sequencing96018
DHODHchr167199974372061832esv3582296+loss25503493SNP array87301
DLDchr7107497099107693680nsv831088+loss17160897BAC aCGH9501
DLDchr7107526737107536280esv34192+loss18971310SNP array27000
DLDchr7107531100107555700nsv949927+duplication24416366Sequencing110
DLDchr7107542350107542464esv3302680+tandem duplication20981092Digital array, Oligo aCGH, PCR, Sequencing18500
DLDchr7107542376107542488esv3374767+duplication20981092Digital array, Oligo aCGH, PCR, Sequencing18510
DLDchr7107558867107558868nsv471995+novel sequence insertion20440878Oligo aCGH, Sequencing910
DLDchr7107563664107563718nsv365319+deletion16902084Sequencing2400
DUOX2chr154496886745422842esv2760029+gain+loss17122850BAC aCGH, SNP array27032
DUOX2chr154511439345413828nsv7264+inversion18451855FISH, Multiple complete digestion, Oligo aCGH, Sequencing900
DUOX2chr154538199745460422nsv569312+loss21841781Oligo aCGH, SNP array1742101
DUOX2chr154538695245389379nsv9262+gain18304495Oligo aCGH3110
DUOX2chr154539010845393743esv3636333+loss21293372Sequencing250401
ENPP3chr6131917171132321099nsv7968+loss18304495Oligo aCGH3104
ENPP3chr6131953927132138396dgv88n68+loss17160897BAC aCGH9502
ENPP1chr6132075565132166076esv3610819+gain21293372Sequencing250410