A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204563



Internal ID20771603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32472401..32478000hg38UCSC Ensembl
chr22:32868388..32873987hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg385600
hg195600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6544657
Supporting Variants
Samples
Known GenesFBXO7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204563
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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