A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5707538



Internal ID21733859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:69807218..69807218hg38UCSC Ensembl
chr11:69621986..69621986hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17191214
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)nsv5707538
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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