A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556488



Internal ID15997211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125111809..125296916hg38UCSC Ensembl
Innerchr11:124981705..125166812hg19UCSC Ensembl
Innerchr11:124486915..124672022hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38185108
hg19185108
hg18185108
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv784650
Samples
Known GenesPKNOX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556488
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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