A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684086



Internal ID107752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92127683..92127758hg38UCSC Ensembl
chr12:92521459..92521534hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510504
Supporting Variants
Samples
Known GenesC12orf79
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684086
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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