A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223459



Internal ID22367224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:85397573..85432984hg38UCSC Ensembl
Outerchr16:85431179..85466590hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg3835412
hg1935412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3307n152
Supporting Variantsnssv14259308, nssv14259306, nssv14259305, nssv14259307, nssv14259309
SamplesHG00512, NA19238, HG00732, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223459
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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