A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5956954



Internal ID22732107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19919729..19919779hg38UCSC Ensembl
chr22:19907252..19907302hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393336
Samples
Known GenesTXNRD2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5956954
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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