A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6551068



Internal ID20924208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30871755..30879182hg38UCSC Ensembl
chr22:31267742..31275169hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg387428
hg197428
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205001
Samples
Known GenesOSBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6551068
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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