A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482882



Internal ID260327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66729282..66745480hg38UCSC Ensembl
chr8:67641517..67657715hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg3816199
hg1916199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735816
Samples
Known GenesC8orf44-SGK3, SGK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482882
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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