A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5684168



Internal ID21710489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240917848..240917848hg38UCSC Ensembl
chr1:241081148..241081148hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194262, nssv17207808
Samples
Known GenesRGS7
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)nsv5684168
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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