A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717115



Internal ID140781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32024138..32024148hg38UCSC Ensembl
chr18:29604101..29604111hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38541
hg19541
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555677
Supporting Variants
Samples
Known GenesRNF125
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717115
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001406


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