A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5991449



Internal ID21900792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113512698..113522820hg38UCSC Ensembl
chr3:113231545..113241667hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3810123
hg1910123
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17545020
Samples
Known GenesSPICE1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5991449
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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