A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699809



Internal ID21726130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:89332792..89332792hg38UCSC Ensembl
chr9:91947707..91947707hg19UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17187244, nssv17226765
Samples
Known GenesSECISBP2
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)nsv5699809
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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