A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594472



Internal ID16381881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:64292373..64537688hg38UCSC Ensembl
Innerchr4:65158091..65403406hg19UCSC Ensembl
Innerchr4:64840686..65086001hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38245316
hg19245316
hg18245316
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1001629
Samples
Known GenesTECRL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594472
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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