A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695744



Internal ID21722065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:4623476..4623476hg38UCSC Ensembl
chr9:4623476..4623476hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17186492
Samples
Known GenesSPATA6L
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)nsv5695744
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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