A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446520



Internal ID224843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56756545..56759259hg38UCSC Ensembl
chr3:56790573..56793287hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg382715
hg192715
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932816
Samples
Known GenesARHGEF3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446520
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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