A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010889



Internal ID19100106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68509618..68581958hg38UCSC Ensembl
Innerchr4:69375336..69447676hg19UCSC Ensembl
Innerchr4:69057931..69130271hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3872341
hg1972341
hg1872341
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5266n100
Supporting Variantsnssv3744806, nssv3629561, nssv3629601, nssv3744820, nssv3744814, nssv3629590, nssv3629605, nssv3629575, nssv3629604, nssv3629609, nssv3629576, nssv3629608, nssv3629566, nssv3629568, nssv3744809, nssv3629619, nssv3629570, nssv3629567, nssv3629616, nssv3629607, nssv3629562, nssv3629617, nssv3629600, nssv3744824, nssv3744821, nssv3629611, nssv3629580, nssv3629591, nssv3629584, nssv3629578, nssv3629563, nssv3629595, nssv3629582, nssv3744818, nssv3629596, nssv3629593, nssv3629564, nssv3629587, nssv3629559, nssv3629565, nssv3744817, nssv3744805, nssv3629612, nssv3629586, nssv3629574, nssv3629598, nssv3629572, nssv3629588, nssv3629581, nssv3629618, nssv3629597, nssv3629589, nssv3744807, nssv3744822, nssv3629599, nssv3629579, nssv3629583, nssv3629560, nssv3629610, nssv3629594, nssv3629585, nssv3629606, nssv3629577, nssv3744808, nssv3744815, nssv3629613, nssv3744813, nssv3629569, nssv3629571, nssv3629573, nssv3744823, nssv3744816, nssv3629614, nssv3629615, nssv3629592, nssv3629602, nssv3744819, nssv3629603, nssv3744812, nssv3744810, nssv3744811
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010889
Frequency
Sample Size11257
Observed Gain0
Observed Loss81
Observed Complex0
Frequencyn/a


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