A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725674



Internal ID149340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55404033..55404057hg38UCSC Ensembl
chr19:55915401..55915425hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428533
Supporting Variants
Samples
Known GenesUBE2S
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725674
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.009013


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