A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216511



Internal ID22362484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:85399802..85432984hg38UCSC Ensembl
Outerchr16:85433408..85466590hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg3833183
hg1933183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3307n152
Supporting Variantsnssv14259668, nssv14259667, nssv14259311, nssv14259310, nssv14259669
SamplesNA19238, NA19239, HG00731, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216511
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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