A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564280



Internal ID16351689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35136670..35144578hg38UCSC Ensembl
Innerchr14:35605876..35613784hg19UCSC Ensembl
Innerchr14:34675627..34683535hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg387909
hg197909
hg187909
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3625n54
Supporting Variantsnssv825499, nssv825546, nssv825480, nssv825508, nssv825550, nssv825567, nssv825524, nssv825542, nssv825570, nssv825483, nssv825571, nssv825495, nssv825530, nssv825510, nssv825569, nssv825486, nssv825568, nssv825575, nssv825554, nssv825488, nssv825532, nssv825563, nssv825551, nssv825556, nssv825566, nssv825502, nssv825538, nssv825491, nssv825536, nssv825525, nssv825547, nssv825541, nssv825482, nssv825519, nssv825545, nssv825527, nssv825478, nssv825509, nssv825484, nssv825507, nssv825479, nssv825504, nssv825523, nssv825506, nssv825535, nssv825555, nssv825512, nssv825574, nssv825516, nssv825517, nssv825552, nssv825511, nssv825503, nssv825492, nssv825540, nssv825573, nssv825537, nssv825533, nssv825497, nssv825490, nssv825565, nssv825549, nssv825544, nssv825494, nssv825560, nssv825564, nssv825514, nssv825531, nssv825526, nssv825501, nssv825481, nssv825572, nssv825521, nssv825477, nssv825548, nssv825520, nssv825496, nssv825534, nssv825561, nssv825558, nssv825493, nssv825553, nssv825543, nssv825515, nssv825489, nssv825513, nssv825500, nssv825559, nssv825539, nssv825518, nssv825529, nssv825485, nssv825505, nssv825557, nssv825498, nssv825528, nssv825562, nssv825576, nssv825487, nssv825522
Samples
Known GenesKIAA0391
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564280
Frequency
Sample Size17421
Observed Gain0
Observed Loss100
Observed Complex0
Frequencyn/a


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