A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16942411



Internal ID28948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:167446548..167446566hg38UCSC Ensembl
chr3:167164336..167164354hg19UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5394767
Supporting Variants
Samples
Known GenesSERPINI2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16942411
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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