A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592518



Internal ID16379927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:172604186..172666800hg38UCSC Ensembl
Innerchr3:172321976..172384590hg19UCSC Ensembl
Innerchr3:173804670..173867284hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3862615
hg1962615
hg1862615
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8730n54
Supporting Variantsnssv981233
Samples
Known GenesNCEH1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592518
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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