A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968272



Internal ID22743208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21597775..21597775hg38UCSC Ensembl
chr22:21952064..21952064hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38217
hg19217
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401809
Samples
Known GenesUBE2L3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968272
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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