A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17705362



Internal ID129028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1268534..1321455hg38UCSC Ensembl
chr16:1318535..1371456hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3852922
hg1952922
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5519190
Supporting Variants
Samples
Known GenesUBE2I
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17705362
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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