A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5539068



Internal ID314066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50243586..50243632hg38UCSC Ensembl
chr22:50682015..50682061hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729927
Samples
Known GenesTUBGCP6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5539068
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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