A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv376n54



Internal ID20133800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:97787849..97871727hg38UCSC Ensembl
chr1:98253405..98337283hg19UCSC Ensembl
chr1:98025993..98109871hg18UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3883879
hg1983879
hg1883879
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546870, nsv546871, nsv546869
Samples
Known GenesDPYD
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv376n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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