A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1035280



Internal ID15888466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78814762..78819688hg38UCSC Ensembl
Innerchr5:78110585..78115511hg19UCSC Ensembl
Innerchr5:78146341..78151267hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg384927
hg194927
hg184927
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598728
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)nssv1035280
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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