A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204888



Internal ID20771928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25281522..25563706hg38UCSC Ensembl
chr22:25677489..25959673hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38282185
hg19282185
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6552065
Supporting Variants
Samples
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204888
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.01532


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