A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv719623



Internal ID16013579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:97215786..97220436hg38UCSC Ensembl
Innerchr1:97681342..97685992hg19UCSC Ensembl
Innerchr1:97453930..97458580hg18UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg384651
hg194651
hg184651
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546862
Supporting Variants
Samples
Known GenesDPYD, DPYD-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv719623
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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