A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4894n54



Internal ID18997070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6771871..6890632hg38UCSC Ensembl
chr16:6821872..6940633hg19UCSC Ensembl
chr16:6761873..6880634hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38118762
hg19118762
hg18118762
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571362, nsv571363, nsv571365
SamplesHGDP01262, HGDP01276
Known GenesRBFOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4894n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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