A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212124



Internal ID22359467
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283134, nssv14283133
SamplesHG00732, HG00733
Known GenesRPTOR
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212124
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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