A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233861



Internal ID22372857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:42318505..42328913hg38UCSC Ensembl
Outerchr22:42714511..42724919hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381452
hg191452
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268202, nssv14268205, nssv14268201, nssv14268200, nssv14268203, nssv14268206, nssv14268204
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233861
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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