A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17692969



Internal ID116635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:82559404..82565727hg38UCSC Ensembl
chr13:83133539..83139862hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg386324
hg196324
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508574
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17692969
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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