A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5888541



Internal ID22663548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56756546..56759173hg38UCSC Ensembl
chr3:56790574..56793201hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg382628
hg192628
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17422528
Samples
Known GenesARHGEF3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5888541
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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