A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944474



Internal ID30323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194005555..194005606hg38UCSC Ensembl
chr3:193723344..193723395hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5413898
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944474
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002966


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