A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716948



Internal ID21743269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:18334634..18334634hg38UCSC Ensembl
chrX:18352754..18352754hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg386015
hg196015
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252581, nssv17228944
Samples
Known GenesSCML2
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)nsv5716948
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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