A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010287



Internal ID74487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22814878..22814929hg38UCSC Ensembl
chr8:22672391..22672442hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5412593
Supporting Variants
Samples
Known GenesPEBP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010287
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001561


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