A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5998331



Internal ID21907674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70782401..70782479hg38UCSC Ensembl
chr4:71648118..71648196hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17544549
Samples
Known GenesRUFY3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5998331
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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