A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17417446



Internal ID22475316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:85555300..85559120hg38UCSC Ensembl
chr4:86476453..86480273hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg383821
hg193821
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5901140
Supporting Variants
Samples
Known GenesARHGAP24
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17417446
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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