A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4906n54



Internal ID20138330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8724825..8864606hg38UCSC Ensembl
chr16:8818682..8958463hg19UCSC Ensembl
chr16:8726183..8865964hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38139782
hg19139782
hg18139782
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571426, nsv571425
SamplesHGDP01291, HGDP01063
Known GenesABAT, CARHSP1, PMM2, TMEM186
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4906n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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