A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701463



Internal ID21727784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111827035..111827035hg38UCSC Ensembl
chr11:111697759..111697759hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17191579
Samples
Known GenesALG9
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)nsv5701463
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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