A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17691716



Internal ID115382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:68054053..68082179hg38UCSC Ensembl
chr13:68628185..68656311hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3828127
hg1928127
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5512410
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17691716
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002813


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