A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598433



Internal ID16385842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69538215..69548024hg38UCSC Ensembl
Innerchr5:68834042..68843851hg19UCSC Ensembl
Innerchr5:68869798..68879607hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg389810
hg199810
hg189810
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9835n54
Supporting Variantsnssv1034660
Samples
Known GenesLOC647859, OCLN, SMA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598433
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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