A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714588



Internal ID21740909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:134786171..134786171hg38UCSC Ensembl
chrX:133920201..133920201hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233931
Samples
Known GenesFAM122B
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)nsv5714588
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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