A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480545



Internal ID258051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:118846434..118854349hg38UCSC Ensembl
chr9:121608712..121616627hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg387916
hg197916
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17027669
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480545
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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