A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4808n54



Internal ID20138232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:279211..287691hg38UCSC Ensembl
chr16:329211..337691hg19UCSC Ensembl
chr16:269212..277692hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg388481
hg198481
hg188481
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv570950, nsv570948
Samples
Known GenesARHGDIG, AXIN1, PDIA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4808n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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