A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600089



Internal ID16387498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:152820549..153109331hg38UCSC Ensembl
Innerchr5:152200109..152488891hg19UCSC Ensembl
Innerchr5:152180302..152469084hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38288783
hg19288783
hg18288783
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1044078
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600089
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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