A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14341950



Internal ID22235314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86176020..86181514hg38UCSC Ensembl
chr8:87188249..87193743hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg385495
hg195495
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224923
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14341950
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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