A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692299



Internal ID21718620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11264427..11264427hg38UCSC Ensembl
chr6:11264660..11264660hg19UCSC Ensembl
Cytoband6p24.2
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 Variantsnssv17177246, nssv17221835
Samples
Known GenesNEDD9
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)nsv5692299
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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