A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1035251



Internal ID15888437
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 StatusS
Merged Variantsnsv598722
Supporting Variants
Samples
Known GenesARSB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1035251
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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