A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688919



Internal ID112585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70233143..70255903hg38UCSC Ensembl
chr12:70626923..70649683hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3822761
hg1922761
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499871
Supporting Variants
Samples
Known GenesCNOT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688919
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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