A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14300915



Internal ID22140781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43470237..43470327hg38UCSC Ensembl
chr21:44890117..44890207hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216018
Supporting Variants
SamplesHG00513
Known GenesLINC00313
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14300915
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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