A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040634



Internal ID18783165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34435409..34538731hg38UCSC Ensembl
Innerchr15:34727610..34830932hg19UCSC Ensembl
Innerchr15:32514902..32618224hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38103323
hg19103323
hg18103323
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2562n100
Supporting Variantsnssv3716607, nssv3551518, nssv3551513, nssv3551472, nssv3551474, nssv3716596, nssv3551508, nssv3551514, nssv3551480, nssv3716610, nssv3551492, nssv3551463, nssv3716606, nssv3551477, nssv3551517, nssv3551471, nssv3551519, nssv3716601, nssv3716594, nssv3551487, nssv3551468, nssv3716608, nssv3716598, nssv3716600, nssv3551511, nssv3551467, nssv3551495, nssv3716592, nssv3551510, nssv3551499, nssv3551497, nssv3551484, nssv3551498, nssv3551482, nssv3551470, nssv3551464, nssv3551489, nssv3551512, nssv3551486, nssv3716611, nssv3551475, nssv3551490, nssv3551461, nssv3716597, nssv3551491, nssv3551503, nssv3716591, nssv3551515, nssv3551462, nssv3551483, nssv3551485, nssv3551501, nssv3551476, nssv3551507, nssv3716593, nssv3551479, nssv3551500, nssv3716599, nssv3551506, nssv3716605, nssv3551516, nssv3551473, nssv3551505, nssv3716602, nssv3716609, nssv3551481, nssv3551504, nssv3551509, nssv3716595, nssv3716603, nssv3551478, nssv3551502, nssv3551493, nssv3551494, nssv3551466, nssv3551488, nssv3551465, nssv3551496, nssv3551469, nssv3716604
Samples
Known GenesGOLGA8A, GOLGA8B, MIR1233-1, MIR1233-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040634
Frequency
Sample Size29084
Observed Gain1
Observed Loss79
Observed Complex0
Frequencyn/a


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