A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14300896



Internal ID22223923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43035692..43042586hg38UCSC Ensembl
chr21:44455802..44462696hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg386895
hg196895
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223323
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14300896
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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