A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16905493



Internal ID4473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84541430..84541430hg38UCSC Ensembl
chr1:85007113..85007113hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403132
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16905493
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002031


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