A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556143



Internal ID16343552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:102433650..102436019hg38UCSC Ensembl
Innerchr11:102304381..102306750hg19UCSC Ensembl
Innerchr11:101809591..101811960hg18UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg382370
hg192370
hg182370
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2134n54
Supporting Variantsnssv782009
Samples
Known GenesTMEM123
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556143
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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