A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3848n54



Internal ID22771743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93115086..93116469hg38UCSC Ensembl
chr14:93581431..93582814hg19UCSC Ensembl
chr14:92651184..92652567hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg381384
hg191384
hg181384
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv565569, nsv565561, nsv565559, nsv565560, nsv565565
Samples
Known GenesITPK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3848n54
Frequency
Sample Size17421
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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