A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598738



Internal ID16386147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78984709..78985330hg38UCSC Ensembl
Innerchr5:78280532..78281153hg19UCSC Ensembl
Innerchr5:78316288..78316909hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38622
hg19622
hg18622
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9898n54
Supporting Variantsnssv1035301, nssv1035302
Samples
Known GenesARSB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598738
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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