A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594479



Internal ID16381888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:65688491..65739511hg38UCSC Ensembl
Innerchr4:66554209..66605229hg19UCSC Ensembl
Innerchr4:66236804..66287824hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3851021
hg1951021
hg1851021
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9097n54
Supporting Variantsnssv1001744
Samples
Known GenesLOC100144602
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594479
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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