A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594579



Internal ID16381988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68731457..68800252hg38UCSC Ensembl
Innerchr4:69597175..69665970hg19UCSC Ensembl
Innerchr4:69631764..69700559hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3868796
hg1968796
hg1868796
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv992778
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594579
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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