A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16920233



Internal ID14267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161338643..161338694hg38UCSC Ensembl
chr2:162195154..162195205hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5412461
Supporting Variants
Samples
Known GenesPSMD14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16920233
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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