A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5713869



Internal ID21740190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109102250..109102250hg38UCSC Ensembl
chr8:110114479..110114479hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17184545, nssv17229693
Samples
Known GenesTRHR
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)nsv5713869
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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