A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556473



Internal ID16343882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:120517119..120517627hg38UCSC Ensembl
Innerchr11:120387828..120388336hg19UCSC Ensembl
Innerchr11:119893038..119893546hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38509
hg19509
hg18509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv784626, nssv784638, nssv784632, nssv784627, nssv784619, nssv784637, nssv784620, nssv784618, nssv784631, nssv784617, nssv784621, nssv784625, nssv784634, nssv784636, nssv784624, nssv784628, nssv784633, nssv784629, nssv784623, nssv784635, nssv784622, nssv784630
Samples
Known GenesGRIK4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556473
Frequency
Sample Size17421
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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