A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688181



Internal ID111847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:58722227..58724304hg38UCSC Ensembl
chr13:59296361..59298438hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg382078
hg192078
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501578
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688181
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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