A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598519



Internal ID16385928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70078155..70080082hg38UCSC Ensembl
Innerchr5:69373982..69375909hg19UCSC Ensembl
Innerchr5:69409738..69411665hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381928
hg191928
hg181928
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034899
Samples
Known GenesSMA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598519
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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