A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16261119



Internal ID20470337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80274588..80275050hg38UCSC Ensembl
chr17:78248387..78248849hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38463
hg19463
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4736511
Supporting Variants
Samples
Known GenesRNF213
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16261119
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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