A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687853



Internal ID111519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:53033986..53034000hg38UCSC Ensembl
chr13:53608121..53608135hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5553404
Supporting Variants
Samples
Known GenesOLFM4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687853
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.240264


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