A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281597



Internal ID22270840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:65173772..65188215hg38UCSC Ensembl
Outerchr8:66086007..66100450hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg3814444
hg1914444
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221934
Supporting Variants
SamplesNA19239
Known GenesLINC00251
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281597
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