A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717801



Internal ID21744122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:40311917..40311917hg38UCSC Ensembl
chrX:40171170..40171170hg19UCSC 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 Variantsnssv17222342, nssv17205249
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)nsv5717801
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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