A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684720



Internal ID108386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116870772..116871451hg38UCSC Ensembl
chr12:117308577..117309256hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38680
hg19680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497884
Supporting Variants
Samples
Known GenesHRK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684720
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001408


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