A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542504



Internal ID316917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:51649938..51649962hg38UCSC Ensembl
chr3:51683954..51683978hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734862
Samples
Known GenesRAD54L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542504
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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