A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14341858



Internal ID22141796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:83716751..83716810hg38UCSC Ensembl
chr8:84628986..84629045hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528893
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14341858
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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