A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556471



Internal ID329608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119842326..119842377hg38UCSC Ensembl
chr3:119561173..119561224hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg382127
hg192127
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16938688
Samples
Known GenesGSK3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556471
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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