A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684498



Internal ID108164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111622335..111625892hg38UCSC Ensembl
chr12:112060139..112063696hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg383558
hg193558
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495259
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684498
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002186


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