A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4991n54



Internal ID22772886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31990503..32667712hg38UCSC Ensembl
chr16:32001824..32679033hg19UCSC Ensembl
chr16:31909325..32586534hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38677210
hg19677210
hg18677210
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571833, nsv571832, nsv571827, nsv571830, nsv571829, nsv571828, nsv571831, nsv571826
Samples
Known GenesHERC2P4, LOC390705, TP53TG3D
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4991n54
Frequency
Sample Size17421
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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