A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722945



Internal ID21749266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:29696480..29696480hg38UCSC Ensembl
chrX:29714597..29714597hg19UCSC Ensembl
CytobandXp21.2
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 Variantsnssv17202335
Samples
Known GenesIL1RAPL1
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)nsv5722945
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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