A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481589



Internal ID259063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12983184..13982470hg38UCSC Ensembl
chr8:12840693..13839979hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38999287
hg19999287
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17007442
Samples
Known GenesC8orf48, DLC1, KIAA1456
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481589
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer