A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6551538



Internal ID20924672
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 StatusM
Merged Variants
Supporting Variantsnssv18206751
Samples
Known GenesDERL3, LOC284889, MIF, SLC2A11, SMARCB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6551538
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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