A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17252581



Internal ID21700090
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 StatusS
Merged Variantsnsv5716948
Supporting Variants
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)nssv17252581
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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