A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205722



Internal ID20772762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50311988..50385638hg38UCSC Ensembl
chr22:50750417..50824067hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3873651
hg1973651
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6554758
Supporting Variants
Samples
Known GenesDENND6B, PPP6R2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205722
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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