A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14341114



Internal ID22126882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:77469384..77469486hg38UCSC Ensembl
chr8:78381620..78381722hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218910
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14341114
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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