A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14299479



Internal ID22223627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50666190..50666190hg38UCSC Ensembl
chr20:49282727..49282727hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561879
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14299479
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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