A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5954144



Internal ID22729404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42121553..42132728hg38UCSC Ensembl
chr22:42517557..42528735hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3811176
hg1911179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17406029
Samples
Known GenesCYP2D6, NDUFA6-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5954144
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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