A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546861



Internal ID16334270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:97210963..97220480hg38UCSC Ensembl
Innerchr1:97676519..97686036hg19UCSC Ensembl
Innerchr1:97449107..97458624hg18UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg389518
hg199518
hg189518
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv719622
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)nsv546861
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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