A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17417819



Internal ID22475689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:190631907..190632043hg38UCSC Ensembl
chr3:190349696..190349832hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5901954
Supporting Variants
Samples
Known GenesIL1RAP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17417819
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005


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