A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686497



Internal ID110163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:28719549..28728492hg38UCSC Ensembl
chr13:29293686..29302629hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg388944
hg198944
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498121
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686497
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