Riboflavin CNV Data


Gene SymbolChromosomeStartEndNameStrandVariation TypePMIDMethodSample SizeObserver GainObserved Loss
GCDHchr191277770013206300nsv953977+deletion24416366Sequencing101
GCDHchr191298702113139000nsv833754+loss17160897BAC aCGH9501
GCDHchr191300466213008605nsv961183+duplication23825009Oligo aCGH, Sequencing97100
GCDHchr191300905513058969nsv1160589+duplication26073780Sequencing, SNP array36910
GCDHchr191301618013021619esv3643715+loss21293372Sequencing250401
GCDHchr191301653313024603esv3583254+loss25503493SNP array87301
GCDHchr191302283613023258esv3643716+loss21293372Sequencing2504068
GCDHchr191302284113023256esv2668234+deletion23128226Merging, Oligo aCGH, PCR, Sequencing, SNP array115108
GFERchr16600002773165esv2422427+duplication17116639qPCR, SNP array18110
GFERchr1619388002185900nsv952901+deletion24416366Sequencing101
GFERchr1619976132074219nsv471070+gain18288195SNP array44320
GFERchr1619976132045731nsv571179+loss21841781Oligo aCGH, SNP array1742101
GFERchr1620055622088585dgv4858n54+loss21841781Oligo aCGH, SNP array1742105
GFERchr1620117272178575nsv1160329+deletion26073780Sequencing, SNP array36901
GFERchr1620151202088585dgv336n27+loss19166990Oligo aCGH, SNP array155702
GFERchr1620218922367509nsv471072+loss18288195SNP array44306
GFERchr1620218922314401dgv4859n54+loss21841781Oligo aCGH, SNP array1742102
GFERchr1620218922133901nsv523037+loss19592680SNP array202601
GFERchr1620218922085997nsv521569+loss19592680SNP array202601
IVDchr154054961640889824esv34145+loss18971310SNP array27000
IVDchr154055290540721883nsv510660+deletion20534489BAC aCGH, Oligo aCGH, Optical mapping, Sequencing401
IVDchr154071076640710833esv2749600+deletion23290073Sequencing9601
IVDchr154071497740714978esv1409557+insertion17803354Merging, Oligo aCGH, Sequencing, SNP array210
IYDchr6150517410150691173nsv830843+gain+loss17160897BAC aCGH9515
IYDchr6150581192150720666esv2763602+loss21179565Merging, SNP array110901
IYDchr6150693130150694118esv2625832+insertion19546169Sequencing110
IYDchr6150693269150694457esv2732880+deletion23290073Sequencing96029
IYDchr6150693346150693748esv2732881+deletion23290073Sequencing9603
IYDchr6150693506150693920esv2732882+deletion23290073Sequencing9605
IYDchr6150693554150693634esv2732883+deletion23290073Sequencing9602
IYDchr6150693562150693689esv1594235+deletion17803354Merging, Oligo aCGH, Sequencing, SNP array201
IYDchr6150693610150693677esv2732885+deletion23290073Sequencing9601
IYDchr6150693630150693928esv2732886+deletion23290073Sequencing96010
IYDchr6150693715150693780esv1485241+deletion17803354Merging, Oligo aCGH, Sequencing, SNP array201
IYDchr6150693840150693907nsv1109824+deletion24896259Sequencing201
IYDchr6150693840150693907esv3540631+deletion23714750Sequencing76701
IYDchr6150720438150729878nsv604849+loss21841781Oligo aCGH, SNP array1742101
IYDchr6150720438150729878nsv464078+loss19166990Oligo aCGH, SNP array155701
IYDchr6150722648150722937nsv819256+gain19587683Oligo aCGH, Sequencing, SNP array210
KDM1Achr12337216523372174esv3425192+insertion20981092Digital array, Oligo aCGH, PCR, Sequencing18510
KDM1Achr12340436823423046nsv6520+insertion18451855FISH, Multiple complete digestion, Oligo aCGH, Sequencing910
L2HGDHchr144989368750942527esv28926+gain+loss19812545Oligo aCGH40351
L2HGDHchr145049119950906471nsv564835+gain21841781Oligo aCGH, SNP array1742110
L2HGDHchr145071781350727013esv3551539+deletion23714750Sequencing76701
L2HGDHchr145071786050727010esv2664640+deletion23128226Merging, Oligo aCGH, PCR, Sequencing, SNP array115103
L2HGDHchr145071786250727068esv3634474+loss21293372Sequencing250406
L2HGDHchr145072393350732475esv3634475+loss21293372Sequencing250401
L2HGDHchr145074691150746984nsv1122900+deletion24896259Sequencing201
L2HGDHchr145075421050755648esv3634476+loss21293372Sequencing250401
L2HGDHchr145075825250831339nsv1052059+loss25217958Oligo aCGH, SNP array2908401