A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693497



Internal ID21719818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66950685..66950685hg38UCSC Ensembl
chr1:67416368..67416368hg19UCSC Ensembl
Cytoband1p31.3
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 Variantsnssv17218884, nssv17205786
Samples
Known GenesMIER1
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)nsv5693497
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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