A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3889n54



Internal ID20137313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:99603083..99604555hg38UCSC Ensembl
chr14:100069420..100070892hg19UCSC Ensembl
chr14:99139173..99140645hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381473
hg191473
hg181473
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv565758, nsv565746, nsv565745
Samples
Known GenesCCDC85C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3889n54
Frequency
Sample Size17421
Observed Gain15
Observed Loss5
Observed Complex0
Frequencyn/a


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