A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204514



Internal ID20771554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17649588..17651776hg38UCSC Ensembl
chr22:18132354..18134542hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382189
hg192189
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6541078
Supporting Variants
Samples
Known GenesBCL2L13
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204514
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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