A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598722



Internal ID16386131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78814294..78819688hg38UCSC Ensembl
Innerchr5:78110117..78115511hg19UCSC Ensembl
Innerchr5:78145873..78151267hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg385395
hg195395
hg185395
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9894n54
Supporting Variantsnssv1035254, nssv1035252, nssv1035251, nssv1035253, nssv1035255
Samples
Known GenesARSB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598722
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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