A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5992473



Internal ID21901816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194275705..194275776hg38UCSC Ensembl
chr3:193993494..193993565hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17556621
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5992473
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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