A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478961



Internal ID256503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:9165262..9165931hg38UCSC Ensembl
chr8:9022772..9023441hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38670
hg19670
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17008691
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478961
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer