Cobalamin CNV Data


Gene SymbolChromosomeStartEndNameStrandVariation TypePMIDMethodSample SizeObserver GainObserved Loss
MTRchr1236872742236995520nsv833026+loss17160897BAC aCGH9501
MTRchr1236915547237053346esv2762229+loss21179565Merging, SNP array110901
MTRchr1236985035236985355esv275214+loss21479260SNP array125001
MTRchr1236993443237019245nsv549425+gain21841781Oligo aCGH, SNP array1742110
MTRchr1236996975237019245dgv869n54+loss21841781Oligo aCGH, SNP array1742102
MTRchr1236996975237019121nsv549426+gain+loss21841781Oligo aCGH, SNP array1742112
MTRchr1236997481237019245nsv470784+loss18288195SNP array44301
MTRchr1237066513237072514nsv506985+sequence al20534489BAC aCGH, Oligo aCGH, Optical mapping, Sequencing400
MMADHCchr2150405457150590557nsv834411+gain17160897BAC aCGH9510
MMADHCchr2150379010150469623nsv519036+loss19592680SNP array202601
MMADHCchr2150434253150435612nsv438372+loss16468122SNP array26902
MTRRchr575912368759343nsv597003+gain21841781Oligo aCGH, SNP array1742110
MTRRchr578108117907289nsv597004+gain21841781Oligo aCGH, SNP array1742110
MTRRchr578899437893867esv26647+loss19812545Oligo aCGH4001
MTRRchr578990187899049esv3368102+insertion20981092Digital array, Oligo aCGH, PCR, Sequencing18510
MTRRchr578990237899025esv3308933+mobile elem20981092Digital array, Oligo aCGH, PCR, Sequencing18550
MTRRchr578990307899050esv3420607+insertion20981092Digital array, Oligo aCGH, PCR, Sequencing18560
MTRRchr578990387899040esv3307786+mobile elem20981092Digital array, Oligo aCGH, PCR, Sequencing185130
LMBRD1chr67045457170649604nsv830682+loss17160897BAC aCGH9501
MUTchr64938984349403067esv23331+loss19812545Oligo aCGH4001
MUTchr64939426349403329esv2762590+loss21179565Merging, SNP array110901
MUTchr64942444349434256nsv965724+duplication23825009Oligo aCGH, Sequencing97100
MUTchr64942698349484883nsv603080+loss21841781Oligo aCGH, SNP array1742101
MUTchr64942698349484883nsv462943+loss19166990Oligo aCGH, SNP array155701
LMBRD1chr67046948370472759nsv970139+duplication23825009Oligo aCGH, Sequencing97100
LMBRD1chr67048557770499367esv999346+deletion20482838Oligo aCGH, Sequencing, SNP array301
LMBRD1chr67049019870490199nsv474410+novel seque20440878Oligo aCGH, Sequencing910
LMBRD1chr67050516770514498nsv819863+loss19587683Oligo aCGH, Sequencing, SNP array201
CUBNchr101671328816884482nsv831799+loss17160897BAC aCGH9501
CUBNchr101675447117036690nsv550020+gain21841781Oligo aCGH, SNP array1742110
CUBNchr101675447117036690nsv466758+gain19166990Oligo aCGH, SNP array155710
CUBNchr101684767317031424nsv831800+gain17160897BAC aCGH9520
CUBNchr101703529917080853nsv5932+deletion18451855FISH, Multiple complete digestion, Oligo aCGH, Sequencing901
CUBNchr101713881417171209nsv5943+insertion18451855FISH, Multiple complete digestion, Oligo aCGH, Sequencing910
CUBNchr101716768917347576nsv831801+gain17160897BAC aCGH9510
CUBNchr101689453716898751esv275522+loss21479260SNP array125001
CUBNchr101694651317033583nsv470924+gain18288195SNP array44310
CUBNchr101695687616956877nsv479026+novel seque20440878Oligo aCGH, Sequencing900
CUBNchr101698822517010451nsv947752+duplication23825009Oligo aCGH, Sequencing97100
CUBNchr101705628817058721esv21978+gain19812545Oligo aCGH4010
CUBNchr101706297417087787nsv550021+gain21841781Oligo aCGH, SNP array1742110
CUBNchr101706297417087787nsv466759+gain19166990Oligo aCGH, SNP array155710
CUBNchr101713129817141482nsv550022+loss21841781Oligo aCGH, SNP array1742101
CUBNchr101713356117133562nsv476210+novel seque20440878Oligo aCGH, Sequencing910
CUBNchr101713446217141618esv22833+loss19812545Oligo aCGH4001
CUBNchr101713894017141482dgv966n54+loss21841781Oligo aCGH, SNP array1742109
CUBNchr101713894017139022nsv520521+loss19592680SNP array202602
CUBNchr101713949217141482dgv967n54+loss21841781Oligo aCGH, SNP array1742103
TCN1chr115954545959697136nsv832173+gain17160897BAC aCGH9510
GIFchr115954545959697136nsv832173+gain17160897BAC aCGH9510