A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684857



Internal ID108523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119585901..119612076hg38UCSC Ensembl
chr12:120023706..120049881hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3826176
hg1926176
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498535
Supporting Variants
Samples
Known GenesTMEM233
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684857
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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