A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233206



Internal ID22372692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:80740373..80751964hg38UCSC Ensembl
Outerchr17:78714173..78725764hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg384854
hg194854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3682n152
Supporting Variantsnssv14262274
SamplesHG00732
Known GenesRPTOR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233206
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer