A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556460



Internal ID15997183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:117638122..117852027hg38UCSC Ensembl
Innerchr11:117508837..117722742hg19UCSC Ensembl
Innerchr11:117014047..117227952hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38213906
hg19213906
hg18213906
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv784607
Samples
Known GenesDSCAML1, FXYD2, FXYD6, FXYD6-FXYD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556460
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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