A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18189106



Internal ID20756146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93004580..93011339hg38UCSC Ensembl
chr14:93470925..93477684hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg386760
hg196760
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6511383
Supporting Variants
Samples
Known GenesITPK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18189106
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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