A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280653



Internal ID22127431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:54896992..54901685hg38UCSC Ensembl
Outerchr8:55809552..55814245hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg385978
hg195978
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248215
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280653
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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