A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593462



Internal ID16380871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3667444..3717653hg38UCSC Ensembl
Innerchr4:3669171..3719380hg19UCSC Ensembl
Innerchr4:3638969..3689178hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3850210
hg1950210
hg1850210
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8927n54
Supporting Variantsnssv989292
Samples
Known GenesLOC100133461
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593462
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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