A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973167



Internal ID49493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123522075..123522126hg38UCSC Ensembl
chr5:122857769..122857820hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5405693
Supporting Variants
Samples
Known GenesCSNK1G3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973167
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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