A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282191



Internal ID22330654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:47153986..47165140hg38UCSC Ensembl
Outerchr8:48065609..48076763hg19UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg3811155
hg1911155
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220412
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282191
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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