A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215252



Internal ID22361647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9971970..10039438hg38UCSC Ensembl
Outerchr21:10449998..10517466hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3867469
hg1967469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5436n152
Supporting Variantsnssv14268146, nssv14268145
SamplesNA19238, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215252
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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