A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555454



Internal ID16342863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:78539325..78651174hg38UCSC Ensembl
Innerchr11:78250371..78362219hg19UCSC Ensembl
Innerchr11:77928019..78039867hg18UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38111850
hg19111849
hg18111849
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174835
SamplesHGDP00011
Known GenesNARS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555454
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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