A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563069



Internal ID336007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118261394..118261433hg38UCSC Ensembl
chr12:118699199..118699238hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684792
Samples
Known GenesTAOK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563069
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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