A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448532



Internal ID226804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:79261907..79269957hg38UCSC Ensembl
chr3:79311057..79319107hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg388051
hg198051
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16935500
Samples
Known GenesROBO1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448532
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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