A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268717



Internal ID22270466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9809749..9839479hg38UCSC Ensembl
Outerchr4_gl000193_random:77063..106793hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3820451
hg1920451
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234301
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268717
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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