A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687721



Internal ID111387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:50870251..50872183hg38UCSC Ensembl
chr13:51444387..51446319hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg381933
hg191933
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5506003
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687721
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.042304


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