A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261243



Internal ID22225181
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236251
Supporting Variants
SamplesHG00733
Known GenesRPTOR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261243
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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