A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247987



Internal ID22376849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:90108604..90125387hg38UCSC Ensembl
Outerchr16:90175012..90191795hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg381216
hg191216
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3366n152
Supporting Variantsnssv14260143, nssv14260145, nssv14260144
SamplesHG00512, NA19238, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247987
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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