A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594970



Internal ID16382379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:102860806..102861607hg38UCSC Ensembl
Innerchr4:103781963..103782764hg19UCSC Ensembl
Innerchr4:104001052..104001853hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38802
hg19802
hg18802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9186n54
Supporting Variantsnssv1003635, nssv1003634
Samples
Known GenesUBE2D3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594970
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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