A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596295



Internal ID16383704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:180567916..180619604hg38UCSC Ensembl
Innerchr4:181489069..181540757hg19UCSC Ensembl
Innerchr4:181726063..181777751hg18UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3851689
hg1951689
hg1851689
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1017057
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596295
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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