A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716114



Internal ID21742435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:105493848..105493848hg38UCSC Ensembl
chrX:104737840..104737840hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238611
Samples
Known GenesIL1RAPL2
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5716114
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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