A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267461



Internal ID22273671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:29410408..29482881hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg382304
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234521
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267461
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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