A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14300930



Internal ID22133341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43739101..43743800hg38UCSC Ensembl
chr21:45158982..45163681hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384700
hg194700
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215180
Supporting Variants
SamplesHG00513
Known GenesPDXK
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14300930
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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