A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598436



Internal ID16385845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69538215..69553804hg38UCSC Ensembl
Innerchr5:68834042..68849631hg19UCSC Ensembl
Innerchr5:68869798..68885387hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3815590
hg1915590
hg1815590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9836n54
Supporting Variantsnssv1034666
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)nsv598436
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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