A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5536968



Internal ID312353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33552917..33552972hg38UCSC Ensembl
chr21:34925223..34925278hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726670
Samples
Known GenesSON
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5536968
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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