A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5709860



Internal ID21736181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18038897..18038897hg38UCSC Ensembl
chr11:18060444..18060444hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17190422, nssv17222373
Samples
Known GenesTPH1
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)nsv5709860
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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