A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594016



Internal ID16381425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39707188..39710944hg38UCSC Ensembl
Innerchr4:39708808..39712564hg19UCSC Ensembl
Innerchr4:39385203..39388959hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg383757
hg193757
hg183757
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9016n54
Supporting Variantsnssv995939, nssv995940
Samples
Known GenesUBE2K
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594016
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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