A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16296705



Internal ID20505923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80355314..80355593hg38UCSC Ensembl
chr17:78329114..78329393hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4735033
Supporting Variants
Samples
Known GenesLOC100294362, RNF213
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16296705
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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