A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280424



Internal ID22139683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:100412691..100433070hg38UCSC Ensembl
Outerchr8:101424919..101445298hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg381882
hg191882
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240094
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280424
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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