A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594019



Internal ID16381428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39707188..39712123hg38UCSC Ensembl
Innerchr4:39708808..39713743hg19UCSC Ensembl
Innerchr4:39385203..39390138hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg384936
hg194936
hg184936
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9016n54
Supporting Variantsnssv995944
Samples
Known GenesUBE2K
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594019
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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