A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594017



Internal ID16381426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39707188..39711454hg38UCSC Ensembl
Innerchr4:39708808..39713074hg19UCSC Ensembl
Innerchr4:39385203..39389469hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg384267
hg194267
hg184267
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9016n54
Supporting Variantsnssv995941
Samples
Known GenesUBE2K
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594017
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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