A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16943685



Internal ID29768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:180109087..180109138hg38UCSC Ensembl
chr3:179826875..179826926hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5398940
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16943685
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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