A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594334



Internal ID16381743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:62171606..62292842hg38UCSC Ensembl
Innerchr4:63037324..63158560hg19UCSC Ensembl
Innerchr4:62719919..62841155hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38121237
hg19121237
hg18121237
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153462
SamplesHGDP00886
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594334
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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