A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684799



Internal ID108465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118380326..118382634hg38UCSC Ensembl
chr12:118818131..118820439hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg382309
hg192309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5506177
Supporting Variants
Samples
Known GenesSUDS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684799
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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