A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5707807



Internal ID21734128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109036155..109036155hg38UCSC Ensembl
chr9:111798435..111798435hg19UCSC Ensembl
Cytoband9q31.3
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 Variantsnssv17228639, nssv17187343
Samples
Known GenesTMEM245
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)nsv5707807
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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