A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704180



Internal ID21730501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109554771..109554771hg38UCSC Ensembl
chr9:112317051..112317051hg19UCSC 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 Variantsnssv17221757, nssv17187514
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)nsv5704180
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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