A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944887



Internal ID30592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:188047669..188047691hg38UCSC Ensembl
chr3:187765457..187765479hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5544624
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944887
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004683


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