A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243245



Internal ID22375514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46031810..46056476hg38UCSC Ensembl
Outerchr21:47451724..47476390hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383038
hg193038
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5608n152
Supporting Variantsnssv14267720, nssv14267721
SamplesHG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243245
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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