A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228015



Internal ID22370330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:5558988..5688475hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38129488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5409n152
Supporting Variantsnssv14267887, nssv14267888
SamplesNA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228015
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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