A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5486120



Internal ID263494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48947793..48994474hg38UCSC Ensembl
chr8:49860352..49907033hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3846682
hg1946682
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010909
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5486120
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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