A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4887n54



Internal ID18997063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6428897..6728995hg38UCSC Ensembl
chr16:6478898..6778996hg19UCSC Ensembl
chr16:6418899..6718997hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38300099
hg19300099
hg18300099
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571325, nsv571326
SamplesHGDP00672
Known GenesRBFOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4887n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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