A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702806



Internal ID21729127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126561283..126561283hg38UCSC Ensembl
chr11:126431178..126431178hg19UCSC 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 Variantsnssv17192063
Samples
Known GenesKIRREL3
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5702806
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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