A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6049757



Internal ID21958990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41471732..41536192hg38UCSC Ensembl
chr22:41867736..41932196hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3864461
hg1964461
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17646992
Samples
Known GenesACO2, POLR3H
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6049757
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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