A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204610



Internal ID20771650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36024460..36026097hg38UCSC Ensembl
chr22:36420508..36422145hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381638
hg191638
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6549546
Supporting Variants
Samples
Known GenesRBFOX2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204610
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00066


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