A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483685



Internal ID261118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:16023868..16498646hg38UCSC Ensembl
chr8:15881377..16356155hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38474779
hg19474779
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17007711
Samples
Known GenesMSR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483685
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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