A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684496



Internal ID108162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111604782..111608724hg38UCSC Ensembl
chr12:112042586..112046528hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg383943
hg193943
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501248
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684496
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