A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207569



Internal ID22355936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:159639577..159693235hg38UCSC Ensembl
Outerchr6:160060609..160114267hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg3853659
hg1953659
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276011, nssv14276015, nssv14276014, nssv14276012, nssv14276013
SamplesNA19238, HG00731, HG00732, HG00513, HG00514
Known GenesSOD2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207569
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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