A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063638



Internal ID18806169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46270361..46674922hg38UCSC Ensembl
Innerchr17:44347727..44752288hg19UCSC Ensembl
Innerchr17:41703504..42107467hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38404562
hg19404562
hg18403964
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3250n100
Supporting Variantsnssv3564544, nssv3725480, nssv3725518, nssv3725512, nssv3725522, nssv3564561, nssv3725481, nssv3565702, nssv3725476, nssv3725542, nssv3565729, nssv3565731, nssv3565703, nssv3725544, nssv3564549, nssv3565713, nssv3565711, nssv3564585, nssv3725534, nssv3725523, nssv3564565, nssv3725474, nssv3565737, nssv3565722, nssv3725520, nssv3564562, nssv3725502, nssv3725488, nssv3725547, nssv3565720, nssv3725477, nssv3564538, nssv3725495, nssv3725540, nssv3565712, nssv3725535, nssv3565738, nssv3564536, nssv3565704, nssv3725513, nssv3564573, nssv3725527, nssv3565705, nssv3564541, nssv3725531, nssv3564546, nssv3565732, nssv3565717, nssv3564537, nssv3565727, nssv3725533, nssv3725475, nssv3565735, nssv3564552, nssv3725545, nssv3725498, nssv3564569, nssv3725514, nssv3565733, nssv3565749, nssv3565714, nssv3725501, nssv3725497, nssv3564539, nssv3564557, nssv3564551, nssv3725537, nssv3725506, nssv3564589, nssv3725499, nssv3565734, nssv3564582, nssv3564560, nssv3725483, nssv3725530, nssv3725496, nssv3565715, nssv3725504, nssv3565728, nssv3564578, nssv3564545, nssv3564581, nssv3725494, nssv3565707, nssv3565718, nssv3565708, nssv3565748, nssv3564542, nssv3565751, nssv3564559, nssv3565698, nssv3564554, nssv3564590, nssv3725479, nssv3725532, nssv3725526, nssv3725486, nssv3564550, nssv3565742, nssv3565700, nssv3564567, nssv3564540, nssv3565750, nssv3564563, nssv3565746, nssv3725484, nssv3564566, nssv3564577, nssv3565725, nssv3564535, nssv3725493, nssv3725491, nssv3564588, nssv3564576, nssv3725505, nssv3565721, nssv3565740, nssv3725524, nssv3725489, nssv3565747, nssv3725528, nssv3564579, nssv3725525, nssv3564587, nssv3725511, nssv3725500, nssv3564584, nssv3564580, nssv3725538, nssv3725503, nssv3725487, nssv3565726, nssv3565744, nssv3565739, nssv3725510, nssv3725509, nssv3564564, nssv3725543, nssv3564570, nssv3565743, nssv3565745, nssv3565719, nssv3564574, nssv3564556, nssv3564547, nssv3565730, nssv3725515, nssv3564543, nssv3725490, nssv3565716, nssv3725478, nssv3725517, nssv3564548, nssv3565706, nssv3564586, nssv3725539, nssv3564572, nssv3565710, nssv3564571, nssv3725508, nssv3565701, nssv3725519, nssv3725541, nssv3564553, nssv3564568, nssv3725536, nssv3725482, nssv3725485, nssv3725529, nssv3725516, nssv3565723, nssv3725521, nssv3564555, nssv3565699, nssv3725492, nssv3564583, nssv3565709, nssv3725507, nssv3565741, nssv3565736, nssv3564575, nssv3564558, nssv3565724, nssv3725546
Samples
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063638
Frequency
Sample Size29084
Observed Gain107
Observed Loss77
Observed Complex0
Frequencyn/a


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