A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271123



Internal ID22132589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:80347394..80373797hg38UCSC Ensembl
Outerchr3:80396544..80422947hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg3826404
hg1926404
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193494
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271123
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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