A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4890n54



Internal ID18997066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6590395..6612434hg38UCSC Ensembl
chr16:6640396..6662435hg19UCSC Ensembl
chr16:6580397..6602436hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3822040
hg1922040
hg1822040
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571336, nsv571337
Samples
Known GenesRBFOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4890n54
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