A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5901140



Internal ID22676288
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 StatusM
Merged Variants
Supporting Variantsnssv17417446
Samples
Known GenesARHGAP24
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5901140
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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