A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17701978



Internal ID125644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:42837242..42838105hg38UCSC Ensembl
chr15:43129440..43130303hg19UCSC Ensembl
Cytoband15q15.2
Allele length
AssemblyAllele length
hg38864
hg19864
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495910
Supporting Variants
Samples
Known GenesTTBK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17701978
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