A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267963



Internal ID22224836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9663016..9715413hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg381649
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240391
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267963
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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