A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246853



Internal ID22376548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:71864903..71868107hg38UCSC Ensembl
Outerchr16:71898806..71902010hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg381853
hg191853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259982
SamplesHG00732
Known GenesZNF821
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246853
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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