A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684466



Internal ID108132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110955832..110956302hg38UCSC Ensembl
chr12:111393636..111394106hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38471
hg19471
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502306
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684466
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002185


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