A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730895



Internal ID20506811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46859303..46859395hg38UCSC Ensembl
chr22:47255199..47255291hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16294987
Samples
Known GenesTBC1D22A
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4730895
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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