A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17419659



Internal ID22477529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:154136211..154136278hg38UCSC Ensembl
chr3:153854000..153854067hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5892550
Supporting Variants
Samples
Known GenesARHGEF26
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17419659
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1.00


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