A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685799



Internal ID21712120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46213375..46213375hg38UCSC Ensembl
chr1:46679047..46679047hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17205102, nssv17226897
Samples
Known GenesLURAP1, POMGNT1
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)nsv5685799
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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