A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17731609



Internal ID155275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:23147477..23147528hg38UCSC Ensembl
chr20:23128114..23128165hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5419047
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17731609
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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