Cobalamin CNV Data


Gene SymbolChromosomeStartEndNameStrandVariation TypePMIDMethodSample SizeObserver GainObserved Loss
TCN1chr115957086259731976nsv555150+gain21841781Oligo aCGH, SNP array1742110
GIFchr115957086259731976nsv555150+gain21841781Oligo aCGH, SNP array1742110
TCN1chr115957086259731976nsv468579+gain19166990Oligo aCGH, SNP array155710
GIFchr115957086259731976nsv468579+gain19166990Oligo aCGH, SNP array155710
GIFchr115956663759598633nsv509411+insertion20534489BAC aCGH, Oligo aCGH, Optical mapping, Sequencing410
GIFchr115957022159599391nsv336+insertion18451855FISH, Multiple complete digestion, Oligo aCGH, Sequencing910
GIFchr115960232059610253nsv972036+duplication23825009Oligo aCGH, Sequencing97100
GIFchr115960684159606842nsv480695+novel seque20440878Oligo aCGH, Sequencing900
ABCD4chr147463742074841316nsv832833+gain17160897BAC aCGH9510
ABCD4chr147474776974775717nsv1356+insertion18451855FISH, Multiple complete digestion, Oligo aCGH, Sequencing910
FUT2chr194909783349247266nsv469650+gain16826518BAC aCGH265150
FUT2chr194920440549205160nsv961225+duplication23825009Oligo aCGH, Sequencing97100