A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6040114



Internal ID21949457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125457439..125457492hg38UCSC Ensembl
chr11:125327335..125327388hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17613850
Samples
Known GenesFEZ1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6040114
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