A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688234



Internal ID111900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:59496105..59496156hg38UCSC Ensembl
chr13:60070239..60070290hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556220
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688234
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