A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058152



Internal ID106627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45882932..45882983hg38UCSC Ensembl
chr12:46276715..46276766hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5419227
Supporting Variants
Samples
Known GenesARID2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058152
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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