A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688231



Internal ID111897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:59434497..59441841hg38UCSC Ensembl
chr13:60008631..60015975hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg387345
hg197345
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507559
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688231
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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