A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv553994



Internal ID15994717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:33043848..33455157hg38UCSC Ensembl
Innerchr11:33065394..33476703hg19UCSC Ensembl
Innerchr11:33021970..33433279hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38411310
hg19411310
hg18411310
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1742n54
Supporting Variantsnssv1174616
Samples1780854545_A
Known GenesCSTF3, CSTF3-AS1, HIPK3, LINC00294, TCP11L1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv553994
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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