A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556453



Internal ID16343862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:116865227..116866285hg38UCSC Ensembl
Innerchr11:116735943..116737001hg19UCSC Ensembl
Innerchr11:116241153..116242211hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381059
hg191059
hg181059
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2185n54
Supporting Variantsnssv784594, nssv784588, nssv784590, nssv784598, nssv784596, nssv784595, nssv784591, nssv784593, nssv784592, nssv784589, nssv784597
Samples
Known GenesSIK3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556453
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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