A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv554004



Internal ID16341413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:36576184..37739134hg38UCSC Ensembl
Innerchr11:36597734..37760684hg19UCSC Ensembl
Innerchr11:36554310..37717260hg18UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg381162951
hg191162951
hg181162951
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv771062
Samples
Known GenesC11orf74, RAG1, RAG2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv554004
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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