A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260017



Internal ID22132988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8805026..8818034hg38UCSC Ensembl
Outerchr17:8708344..8721352hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3813009
hg1913009
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218716
Supporting Variants
SamplesHG00513
Known GenesPIK3R6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260017
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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