A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927596



Internal ID19112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190754184..190754235hg38UCSC Ensembl
chr2:191618910..191618961hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5406182
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927596
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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