A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1034660



Internal ID15887846
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 StatusS
Merged Variantsnsv598433
Supporting Variants
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)nssv1034660
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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