A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5688917



Internal ID21715238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:64888814..64888814hg38UCSC Ensembl
chr3:64874489..64874489hg19UCSC Ensembl
Cytoband3p14.1
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 Variantsnssv17207340, nssv17221543
Samples
Known GenesADAMTS9-AS2, MIR548A2
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)nsv5688917
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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