A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598434



Internal ID16385843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69538215..69550613hg38UCSC Ensembl
Innerchr5:68834042..68846440hg19UCSC Ensembl
Innerchr5:68869798..68882196hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3812399
hg1912399
hg1812399
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9835n54
Supporting Variantsnssv1034661
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)nsv598434
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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