A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268632



Internal ID22146569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:19447160..19456782hg38UCSC Ensembl
Outerchr22:19434683..19444305hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg383948
hg193948
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249936
Supporting Variants
SamplesHG00514
Known GenesC22orf39, UFD1L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268632
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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