A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598427



Internal ID16385836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69534241..69555714hg38UCSC Ensembl
Innerchr5:68830068..68851541hg19UCSC Ensembl
Innerchr5:68865824..68887297hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3821474
hg1921474
hg1821474
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034654
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)nsv598427
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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