A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718138



Internal ID141804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:50953447..50953498hg38UCSC Ensembl
chr18:48479817..48479868hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38643
hg19643
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5564037
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718138
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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