A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282192



Internal ID22320894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:70531970..70545338hg38UCSC Ensembl
Outerchr8:71444205..71457573hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3813369
hg1913369
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215423
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282192
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