A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17692479



Internal ID116145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:85595126..85595248hg38UCSC Ensembl
chr13:86169261..86169383hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5509539
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17692479
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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