A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694084



Internal ID117750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:97889487..97889537hg38UCSC Ensembl
chr13:98541741..98541791hg19UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5536809
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694084
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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