A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505621



Internal ID282389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118286973..118303030hg38UCSC Ensembl
chr12:118724778..118740835hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3816058
hg1916058
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684796
Samples
Known GenesTAOK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505621
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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