A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267816



Internal ID22203996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50308075..50323100hg38UCSC Ensembl
Outerchr22:50746504..50761529hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237362
Supporting Variants
SamplesHG00732
Known GenesDENND6B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267816
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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