A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280699



Internal ID22263058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:139130568..139164179hg38UCSC Ensembl
Outerchr8:140142811..140176422hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg387215
hg197215
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247366
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280699
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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