A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv553947



Internal ID15994670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:30453930..31044920hg38UCSC Ensembl
Innerchr11:30475477..31066467hg19UCSC Ensembl
Innerchr11:30432053..31023043hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38590991
hg19590991
hg18590991
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv770672
Samples
Known GenesDCDC5, MPPED2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv553947
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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