A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17423450



Internal ID22481320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:105570181..105575823hg38UCSC Ensembl
chr4:106491338..106496980hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg385643
hg195643
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5894089
Supporting Variants
Samples
Known GenesARHGEF38, ARHGEF38-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17423450
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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