A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598739



Internal ID16386148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78984770..78985550hg38UCSC Ensembl
Innerchr5:78280593..78281373hg19UCSC Ensembl
Innerchr5:78316349..78317129hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38781
hg19781
hg18781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9898n54
Supporting Variantsnssv1035303
Samples
Known GenesARSB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598739
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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