A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16943022



Internal ID29340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183885315..183885366hg38UCSC Ensembl
chr3:183603103..183603154hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5395342
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16943022
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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