A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012929



Internal ID76290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78534244..78534295hg38UCSC Ensembl
chr8:79446479..79446530hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5397654
Supporting Variants
Samples
Known GenesPKIA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012929
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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