A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280546



Internal ID22199416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:62093731..62107499hg38UCSC Ensembl
Outerchr8:63006290..63020058hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg381371
hg191371
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235391
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280546
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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