A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699498



Internal ID21725819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126903367..126903367hg38UCSC Ensembl
chr11:126773263..126773263hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17192065, nssv17225758
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)nsv5699498
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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