A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227026



Internal ID22369642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:8468045..9003144hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38535100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5420n152
Supporting Variantsnssv14267893, nssv14267892, nssv14267894
SamplesNA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227026
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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