A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17013661



Internal ID76784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65430950..65437265hg38UCSC Ensembl
chr8:66343185..66349500hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg386316
hg196316
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5480477
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17013661
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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