A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599489



Internal ID16386898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:117707064..117784749hg38UCSC Ensembl
Innerchr5:117042759..117120444hg19UCSC Ensembl
Innerchr5:117070658..117148343hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3877686
hg1977686
hg1877686
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1040575
Samples
Known GenesLOC102467224
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599489
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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