A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14343462



Internal ID22256274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116811999..116812093hg38UCSC Ensembl
chr8:117824238..117824332hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230162
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14343462
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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