A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219809



Internal ID22364710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:132592863..132610963hg38UCSC Ensembl
Outerchr6:132914002..132932102hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg381098
hg191098
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278950, nssv14278949
SamplesNA19239, HG00733
Known GenesTAAR3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219809
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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