A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594974



Internal ID16382383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:102860860..102862202hg38UCSC Ensembl
Innerchr4:103782017..103783359hg19UCSC Ensembl
Innerchr4:104001106..104002448hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg381343
hg191343
hg181343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9185n54
Supporting Variantsnssv1003642, nssv1003641
Samples
Known GenesUBE2D3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594974
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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