A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058142



Internal ID106621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45752388..45753518hg38UCSC Ensembl
chr12:46146171..46147301hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381131
hg191131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510310
Supporting Variants
Samples
Known GenesARID2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058142
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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