A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236251



Internal ID22373530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:80740373..80753093hg38UCSC Ensembl
Outerchr17:78714173..78726893hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382439
hg192439
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3682n152
Supporting Variantsnssv14261239, nssv14261241, nssv14261240, nssv14261243, nssv14261242
SamplesHG00512, HG00731, HG00733, HG00513, HG00514
Known GenesRPTOR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236251
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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