A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204904



Internal ID20771944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25296261..25592775hg38UCSC Ensembl
chr22:25692228..25988742hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38296515
hg19296515
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6538228
Supporting Variants
Samples
Known GenesADRBK2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204904
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.02048


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