A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693756



Internal ID117422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112800108..112802343hg38UCSC Ensembl
chr13:113454422..113456657hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg382236
hg192236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511540
Supporting Variants
Samples
Known GenesATP11A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693756
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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