Riboflavin CNV Data


Gene SymbolChromosomeStartEndNameStrandVariation TypePMIDMethodSample SizeObserver GainObserved Loss
L2HGDHchr145076096250937575nsv832793+loss17160897BAC aCGH9501
MTHFRchr11185771011862778nsv518652+loss19592680SNP array202601
MTRRchr575382368706343nsv597003+gain21841781Oligo aCGH, SNP array1742110
MTRRchr577578117854289nsv597004+gain21841781Oligo aCGH, SNP array1742110
MTRRchr578604038093077nsv597005+gain21841781Oligo aCGH, SNP array1742110
MTRRchr578649007864937esv3425786+insertion20981092Digital array, Oligo aCGH, PCR, Sequencing18510
MTRRchr578649017864903esv3310380+mobile element insertion20981092Digital array, Oligo aCGH, PCR, Sequencing18510
MTRRchr578649307864945esv3420263+insertion20981092Digital array, Oligo aCGH, PCR, Sequencing18590
MTRRchr578649317864933esv3304082+mobile element insertion20981092Digital array, Oligo aCGH, PCR, Sequencing185100
MTRRchr578829697884210esv2729709+deletion23290073Sequencing96011
MTRRchr578834837883658esv2663385+deletion23128226Merging, Oligo aCGH, PCR, Sequencing, SNP array1151054
MTRRchr578835547883632esv2729710+deletion23290073Sequencing9602
MTRRchr578871087896511dgv334n21+gain19592680SNP array202620
MTRRchr578908917933471nsv508345+deletion20534489BAC aCGH, Oligo aCGH, Optical mapping, Sequencing401
MTRRchr578911007891151esv3064921+deletion24192839Sequencing101
MTRRchr578951857927395nsv4705+insertion18451855FISH, Multiple complete digestion, Oligo aCGH, Sequencing910
NDUFV1chr116723432167626901esv2422195+duplication17116639qPCR, SNP array18110
NDUFV1chr116731991567764068dgv1214n100+gain25217958Oligo aCGH, SNP array2908470
NDUFV1chr116734674267816936dgv1981n54+gain21841781Oligo aCGH, SNP array1742120
NDUFV1chr116735268867816936nsv468606+gain19166990Oligo aCGH, SNP array155710
NDUFV1chr116737247667433869dgv1982n54+loss21841781Oligo aCGH, SNP array1742102
NDUFV1chr116737247667433869dgv154n27+loss19166990Oligo aCGH, SNP array155702
NDUFV1chr116737550067417400nsv951023+deletion24416366Sequencing101
NDUFV2chr1891114959112086esv2664728+deletion23128226Merging, Oligo aCGH, PCR, Sequencing, SNP array1151014
NDUFV2chr1891115329112128esv3641733+loss21293372Sequencing2504045
PNPOchr174588795046029432nsv518892+loss19592680SNP array202601
PNPOchr174599863646019626nsv2072+deletion18451855FISH, Multiple complete digestion, Oligo aCGH, Sequencing901
PNPOchr174601922746029457esv1000014+deletion20482838Oligo aCGH, Sequencing, SNP array301
PORchr77448988876550045nsv528969+gain19592680SNP array202610
PORchr77507004676271236dgv120n16+deletion17901297FISH, Oligo aCGH, PCR, Sequencing201
PORchr77553252675547870esv3571928+loss25503493SNP array87302
PORchr77553556775536358nsv512913+insertion21212237Sequencing, SNP array110
PORchr77553599975536667esv2455300+insertion19546169Sequencing110
PORchr77553617075536171esv1568950+insertion17803354Merging, Oligo aCGH, Sequencing, SNP array210
PORchr77554210175665848esv3613742+loss21293372Sequencing250401
PORchr77554722275559267esv3613743+loss21293372Sequencing250401
PORchr77555198075553455nsv970539+duplication23825009Oligo aCGH, Sequencing97100
PORchr77556384875802680nsv428173+gain18775914BAC aCGH, FISH, PCR6220
PORchr77556675875587234esv3613744+loss21293372Sequencing250401
PORchr77557178675572309esv2674423+deletion23128226Merging, Oligo aCGH, PCR, Sequencing, SNP array115109
PORchr77557178775572279esv3613745+loss21293372Sequencing2504041
PORchr77559441275633194esv3613746+loss21293372Sequencing250402
PORchr77560164875603522esv3613747+loss21293372Sequencing250401
PORchr77560867375616577nsv607517+loss21841781Oligo aCGH, SNP array1742101
PORchr77560870075625400nsv951359+deletion24416366Sequencing101
PORchr77561410475614781nsv824168+gain20364138Oligo aCGH3110
PRODHchr221855179419061713esv2758824+gain+loss17122850BAC aCGH, SNP array2703080
PRODHchr221862663619026613nsv516997+gain+loss19592680SNP array20263321
PRODHchr221863237519030336esv2751935+loss17911159SNP array77103
PRODHchr221864029919057790dgv173e55+gain17911159SNP array77190