A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17691822



Internal ID115488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75281633..75327528hg38UCSC Ensembl
chr13:75855769..75901664hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg3845896
hg1945896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499458
Supporting Variants
Samples
Known GenesTBC1D4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17691822
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