A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243379



Internal ID22375557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46033386..46064694hg38UCSC Ensembl
Outerchr21:47453300..47484608hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381738
hg191738
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5608n152
Supporting Variantsnssv14267672, nssv14267673
SamplesNA19240, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243379
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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