A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267720



Internal ID22135594
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243245
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267720
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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