A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234557



Internal ID22373067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:46462317..46472467hg38UCSC Ensembl
Outerchr22:46858214..46868364hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382008
hg192008
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268245, nssv14268244, nssv14268248, nssv14268247, nssv14268243, nssv14268250, nssv14268246, nssv14268251, nssv14268249
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCELSR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234557
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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