A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14300766



Internal ID22163424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:40298243..40298243hg38UCSC Ensembl
chr20:38926883..38926883hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561876
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14300766
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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