A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6046193



Internal ID21955438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32410864..32473570hg38UCSC Ensembl
chr22:32806851..32869557hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3862707
hg1962707
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17648059
Samples
Known GenesBPIFC, RTCB
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6046193
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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