A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6544507



Internal ID20917745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17703027..17719701hg38UCSC Ensembl
chr22:18185793..18202467hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3816675
hg1916675
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204516
Samples
Known GenesBCL2L13
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6544507
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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