A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5953301



Internal ID22728590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19920316..19920840hg38UCSC Ensembl
chr22:19907839..19908363hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38525
hg19525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392505
Samples
Known GenesTXNRD2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5953301
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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