A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4392759



Internal ID21383789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21594246..21594304hg38UCSC Ensembl
chr22:21948535..21948593hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15706657
Samples
Known GenesUBE2L3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceWong_et_al_2019
Pubmed ID31340865
Accession Number(s)nsv4392759
Frequency
Sample Size174
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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