A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686262



Internal ID109928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:24595804..24953333hg38UCSC Ensembl
chr13:25169942..25527471hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38357530
hg19357530
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561491
Supporting Variants
Samples
Known GenesATP12A, CENPJ, RNF17, TPTE2P1, TPTE2P6
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686262
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.689198


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