A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14300973



Internal ID22257976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43961575..43961681hg38UCSC Ensembl
chr21:45381456..45381562hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220510
Supporting Variants
SamplesNA19238
Known GenesAGPAT3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14300973
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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