A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5993788



Internal ID21903131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:64547484..64549937hg38UCSC Ensembl
chr3:64533160..64535613hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg382454
hg192454
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17550000
Samples
Known GenesADAMTS9
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5993788
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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