A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17015930



Internal ID78268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:114013445..114013519hg38UCSC Ensembl
chr8:115025674..115025748hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5486855
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17015930
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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