A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724123



Internal ID21750444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:37577259..37577259hg38UCSC Ensembl
chrX:37436512..37436512hg19UCSC Ensembl
CytobandXp21.1
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 Variantsnssv17216907, nssv17245680
Samples
Known GenesLANCL3
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)nsv5724123
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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