A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281577



Internal ID22122303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:25068811..25139894hg38UCSC Ensembl
Outerchr8:24926326..24997409hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3871084
hg1971084
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213181
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281577
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