A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3970n54



Internal ID20137394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104865033..104866043hg38UCSC Ensembl
chr14:105331370..105332380hg19UCSC Ensembl
chr14:104402415..104403425hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg381011
hg191011
hg181011
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv566130, nsv566128, nsv566126, nsv566121, nsv566129, nsv566120
Samples
Known GenesCEP170B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3970n54
Frequency
Sample Size17421
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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