A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594940



Internal ID16382349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:98621324..98652199hg38UCSC Ensembl
Innerchr4:99542475..99573350hg19UCSC Ensembl
Innerchr4:99761498..99792373hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg3830876
hg1930876
hg1830876
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1003435
Samples
Known GenesTSPAN5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594940
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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