A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479876



Internal ID257389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:9153127..9467127hg38UCSC Ensembl
chr8:9010637..9324637hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38314001
hg19314001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17008685
Samples
Known GenesLOC157273
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479876
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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