A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14301253



Internal ID22163623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:6512506..6518556hg38UCSC Ensembl
chr21:44540935..44546981hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg386051
hg196047
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220937
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14301253
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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