A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5709717



Internal ID21736038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31515473..31515473hg38UCSC Ensembl
chr17:29842491..29842491hg19UCSC Ensembl
Cytoband17q11.2
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 Variantsnssv17232075, nssv17200535
Samples
Known GenesRAB11FIP4
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)nsv5709717
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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