A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6018889



Internal ID21928232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:133424630..133426224hg38UCSC Ensembl
chr6:133745768..133747362hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg381595
hg191595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17563926
Samples
Known GenesEYA4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6018889
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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