A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5413115



Internal ID192412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:18434062..18434113hg38UCSC Ensembl
chr3:18475554..18475605hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16931147
Samples
Known GenesSATB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5413115
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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