A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721880



Internal ID21748201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:36344268..36344268hg38UCSC Ensembl
chrX:36362383..36362383hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38599
hg19599
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17228118
Samples
Known GenesCXorf30
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)nsv5721880
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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