A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594018



Internal ID16381427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39707188..39711514hg38UCSC Ensembl
Innerchr4:39708808..39713134hg19UCSC Ensembl
Innerchr4:39385203..39389529hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg384327
hg194327
hg184327
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9016n54
Supporting Variantsnssv995942, nssv995943
Samples
Known GenesUBE2K
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594018
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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