A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268596



Internal ID22121902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:35731686..35745486hg38UCSC Ensembl
Outerchr22:36127733..36141533hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg386061
hg196061
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245704
Supporting Variants
SamplesHG00512
Known GenesRBFOX2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268596
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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