A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206751



Internal ID20773792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23829316..23917177hg38UCSC Ensembl
chr22:24171503..24259364hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3887862
hg1987862
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6551538
Supporting Variants
Samples
Known GenesDERL3, LOC284889, MIF, SLC2A11, SMARCB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206751
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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