A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6048946



Internal ID21958180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33857998..34060358hg38UCSC Ensembl
chr22:34253986..34456347hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38202361
hg19202362
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17644676
Samples
Known GenesLARGE
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6048946
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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