A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5670034



Internal ID21618341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49775819..49775819hg38UCSC Ensembl
chr22:50169467..50169467hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17124921
SamplesHG00732
Known GenesBRD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5670034
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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