A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283133



Internal ID22199977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80630097..80640093hg38UCSC Ensembl
chr17:78603897..78613893hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg389997
hg199997
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212124
Supporting Variants
SamplesHG00732
Known GenesRPTOR
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283133
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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