A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4759252



Internal ID20535112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80274588..80274588hg38UCSC Ensembl
chr17:78248387..78248387hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16272441
Samples
Known GenesRNF213
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4759252
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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