A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5684717



Internal ID21711038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69886554..69886554hg38UCSC Ensembl
chr3:69935705..69935705hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17220730
Samples
Known GenesMITF
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)nsv5684717
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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