A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282227



Internal ID22125733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:81360177..81425836hg38UCSC Ensembl
Outerchr8:82272412..82338071hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3865660
hg1965660
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227888
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282227
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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