A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3847n54



Internal ID22771742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93115086..93116087hg38UCSC Ensembl
chr14:93581431..93582432hg19UCSC Ensembl
chr14:92651184..92652185hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg381002
hg191002
hg181002
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv565563, nsv565557
Samples
Known GenesITPK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3847n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


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