A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684507



Internal ID108173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111676016..111730384hg38UCSC Ensembl
chr12:112113820..112168188hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg3854369
hg1954369
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504968
Supporting Variants
Samples
Known GenesACAD10, BRAP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684507
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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