A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250509



Internal ID21698018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:124399497..124399497hg38UCSC Ensembl
chrX:123533347..123533347hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719379
Supporting Variants
Samples
Known GenesTENM1
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)nssv17250509
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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