A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594255



Internal ID16381664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:59770464..60053193hg38UCSC Ensembl
Innerchr4:60636182..60918911hg19UCSC Ensembl
Innerchr4:60318777..60601506hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38282730
hg19282730
hg18282730
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv998164
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594255
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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