A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5537627



Internal ID312872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50625581..50644081hg38UCSC Ensembl
chr22:51064009..51082509hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3818501
hg1918501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729955
Samples
Known GenesARSA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5537627
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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