A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599488



Internal ID16386897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:117521671..117569357hg38UCSC Ensembl
Innerchr5:116857366..116905052hg19UCSC Ensembl
Innerchr5:116885265..116932951hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3847687
hg1947687
hg1847687
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1040574
Samples
Known GenesLINC00992
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599488
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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