A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4901n54



Internal ID20138325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8445407..8576080hg38UCSC Ensembl
chr16:8495409..8626082hg19UCSC Ensembl
chr16:8435410..8566083hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38130674
hg19130674
hg18130674
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571404, nsv571403
SamplesHGDP00438, HGDP00407, HGDP00397
Known GenesTMEM114
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4901n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer