A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278949



Internal ID22218937
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219809
Supporting Variants
SamplesHG00733
Known GenesTAAR3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278949
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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