A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146567



Internal ID345772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21546000..21613564hg38UCSC Ensembl
chr22:21900289..21967853hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3867565
hg1967565
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727798
Samples
Known GenesRIMBP3B, RIMBP3C, UBE2L3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146567
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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