A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281592



Internal ID22278167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:46908676..46962021hg38UCSC Ensembl
Outerchr8:47820298..47873643hg19UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg3853346
hg1953346
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223475
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281592
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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