A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261676



Internal ID22222691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:79479976..79490912hg38UCSC Ensembl
Outerchr17:77476058..77486994hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382115
hg192115
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237380
Supporting Variants
SamplesHG00733
Known GenesRBFOX3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261676
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