A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281057



Internal ID22186066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:117598784..117612161hg38UCSC Ensembl
Outerchr8:118611023..118624400hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg384141
hg194141
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234543
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281057
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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