A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3850n54



Internal ID22771745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93115246..93119996hg38UCSC Ensembl
chr14:93581591..93586341hg19UCSC Ensembl
chr14:92651344..92656094hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg384751
hg194751
hg184751
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv565572, nsv565567
Samples
Known GenesITPK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3850n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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