A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987290



Internal ID21896633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178249732..178260549hg38UCSC Ensembl
chr2:179114459..179125276hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3810818
hg1910818
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17536158
Samples
Known GenesOSBPL6
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987290
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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