A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281019



Internal ID22155471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:99647929..99656775hg38UCSC Ensembl
Outerchr8:100660157..100669003hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg383347
hg193347
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246058
Supporting Variants
SamplesHG00514
Known GenesVPS13B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281019
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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