A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1046313



Internal ID15552813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179218309..179271708hg38UCSC Ensembl
Innerchr5:178645310..178698709hg19UCSC Ensembl
Innerchr5:178577916..178631315hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3853400
hg1953400
hg1853400
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv600498
Supporting Variants
Samples
Known GenesADAMTS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1046313
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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