A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280421



Internal ID22263038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:85654843..85790535hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38146594
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232916
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280421
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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