A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473307



Internal ID250994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49461564..49480589hg38UCSC Ensembl
chr6:49429277..49448302hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3819026
hg1919026
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16983245
Samples
Known GenesCENPQ, MUT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473307
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