A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280522



Internal ID22199412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:23626826..23644306hg38UCSC Ensembl
Outerchr8:23484339..23501819hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg383005
hg193005
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230115
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280522
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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