A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987745



Internal ID21897088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231004934..231005054hg38UCSC Ensembl
chr2:231869649..231869769hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17520058
Samples
Known GenesSPATA3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987745
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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