A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282231



Internal ID22116801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:114514563..114576733hg38UCSC Ensembl
Outerchr8:115526792..115588962hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3862171
hg1962171
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217765
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282231
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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