A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693339



Internal ID117005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:79880767..79886003hg38UCSC Ensembl
chr13:80454902..80460138hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg385237
hg195237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501343
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693339
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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