A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267956



Internal ID22146478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9017882..9064392hg38UCSC Ensembl
Outerchr21:9856715..9903225hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3828777
hg1928777
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245251
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267956
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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