A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4735033



Internal ID20510973
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 StatusM
Merged Variants
Supporting Variantsnssv16296705
Samples
Known GenesLOC100294362, RNF213
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4735033
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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