A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5253n54



Internal ID18997429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82148499..83630977hg38UCSC Ensembl
chr16:82182104..83664582hg19UCSC Ensembl
chr16:80739605..82222083hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg381482479
hg191482479
hg181482479
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv573372, nsv573373
Samples
Known GenesCDH13, MIR3182, MIR8058, MPHOSPH6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5253n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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