A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507962



Internal ID284666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118166003..118169885hg38UCSC Ensembl
chr12:118603808..118607690hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg383883
hg193883
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684788
Samples
Known GenesTAOK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507962
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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