A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414250



Internal ID193534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126561283..126561334hg38UCSC Ensembl
chr11:126431178..126431229hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053518
Samples
Known GenesKIRREL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414250
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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