A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14371114



Internal ID22206766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70073899..70076608hg38UCSC Ensembl
chr14:70540616..70543325hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg382710
hg192710
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218450
Supporting Variants
SamplesHG00732
Known GenesSLC8A3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14371114
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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