A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594214



Internal ID16381623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:57600279..57818819hg38UCSC Ensembl
Innerchr4:58466445..58684985hg19UCSC Ensembl
Innerchr4:58161202..58379742hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38218541
hg19218541
hg18218541
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv998053
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594214
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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