A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599678



Internal ID16040401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:128073467..128083046hg38UCSC Ensembl
Innerchr5:127409159..127418738hg19UCSC Ensembl
Innerchr5:127437058..127446637hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg389580
hg199580
hg189580
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10066n54
Supporting Variantsnssv1032298
Samples
Known GenesFLJ33630
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599678
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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