A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5610217



Internal ID21558522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47066704..47066704hg38UCSC Ensembl
chr3:47108194..47108194hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382683
hg192683
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17130250
SamplesNA19650
Known GenesSETD2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5610217
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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