A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17013356



Internal ID76576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80502540..80502578hg38UCSC Ensembl
chr8:81414775..81414813hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5537277
Supporting Variants
Samples
Known GenesZBTB10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17013356
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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