A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5319n54



Internal ID20138743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88804814..88809520hg38UCSC Ensembl
chr16:88871222..88875928hg19UCSC Ensembl
chr16:87398723..87403429hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg384707
hg194707
hg184707
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv573716, nsv573717
Samples
Known GenesAPRT, CDT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5319n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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