A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248515



Internal ID22377011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:19191009..19215008hg38UCSC Ensembl
Outerchr22:19178521..19202518hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381217
hg191217
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268492, nssv14268497, nssv14268491, nssv14268496, nssv14268494, nssv14268495, nssv14268493
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513
Known GenesCLTCL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248515
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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