A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268497



Internal ID22285455
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248515
Supporting Variants
SamplesNA19240
Known GenesCLTCL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268497
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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