A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694459



Internal ID118125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:94437387..94437438hg38UCSC Ensembl
chr13:95089641..95089692hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5413923
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694459
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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