A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14301752



Internal ID22224111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45155973..45156224hg38UCSC Ensembl
chr21:46575888..46576139hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225352
Supporting Variants
SamplesHG00733
Known GenesADARB1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14301752
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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