A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700758



Internal ID21727079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:101866183..101866183hg38UCSC Ensembl
chr11:101736914..101736914hg19UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17225708, nssv17191490
Samples
Known Genes
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)nsv5700758
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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