A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281071



Internal ID22199535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:1449455..1463798hg38UCSC Ensembl
Outerchr8:1397621..1411964hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg381458
hg191458
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229646
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281071
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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