A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487540



Internal ID264873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:110369197..110369282hg38UCSC Ensembl
chr9:113131477..113131562hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17027619
Samples
Known GenesSVEP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487540
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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