A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17692982



Internal ID116648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:82654153..83706010hg38UCSC Ensembl
chr13:83228288..84280145hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg381051858
hg191051858
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5503844
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17692982
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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