A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716661



Internal ID21742982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:42139916..42139916hg38UCSC Ensembl
chrX:41999169..41999169hg19UCSC Ensembl
CytobandXp11.4
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 Variantsnssv17229352, nssv17205266
Samples
Known Genes
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)nsv5716661
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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