A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266374



Internal ID22320520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:21100310..21124983hg38UCSC Ensembl
Outerchr20:21080951..21105624hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg381408
hg191408
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239590
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266374
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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