A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695451



Internal ID21721772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60298164..60298164hg38UCSC Ensembl
chr11:60065637..60065637hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17191728
Samples
Known GenesMS4A4A
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)nsv5695451
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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