A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4878n54



Internal ID18997054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3879940..3881088hg38UCSC Ensembl
chr16:3929941..3931089hg19UCSC Ensembl
chr16:3869942..3871090hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381149
hg191149
hg181149
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571263, nsv571264
Samples
Known GenesCREBBP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4878n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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