A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5709198



Internal ID21735519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:115073178..115073178hg38UCSC Ensembl
chr9:117835457..117835457hg19UCSC Ensembl
Cytoband9q33.1
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 Variantsnssv17215545, nssv17187758
Samples
Known GenesTNC
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)nsv5709198
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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