A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210458



Internal ID22358355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:129594946..129620879hg38UCSC Ensembl
Outerchr6:129916091..129942024hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38978
hg19978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277082, nssv14277075, nssv14277080, nssv14277078, nssv14277079, nssv14277081, nssv14277083, nssv14277077, nssv14277076
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesARHGAP18
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210458
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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