A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416582



Internal ID195802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70321807..70321858hg38UCSC Ensembl
chr12:70715587..70715638hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688925
Samples
Known GenesCNOT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416582
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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