A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4888n54



Internal ID18997064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6540265..6611691hg38UCSC Ensembl
chr16:6590266..6661692hg19UCSC Ensembl
chr16:6530267..6601693hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3871427
hg1971427
hg1871427
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571329, nsv571328
Samples
Known GenesRBFOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4888n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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