A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010080



Internal ID74362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27512799..27512850hg38UCSC Ensembl
chr8:27370316..27370367hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5400729
Supporting Variants
Samples
Known GenesEPHX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010080
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00281


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