A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17359729



Internal ID22585398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111742954..111877938hg38UCSC Ensembl
chr12:112180758..112315742hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38134985
hg19134985
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5932871
Supporting Variants
Samples
Known GenesACAD10, ALDH2, MAPKAPK5, MAPKAPK5-AS1, MIR6761
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17359729
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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