A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215360



Internal ID22361719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170173174..170189823hg38UCSC Ensembl
Outerchr6:170488398..170505047hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg382072
hg192072
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8280n152
Supporting Variantsnssv14279044, nssv14279045, nssv14279046
SamplesHG00732, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215360
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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