A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17252156



Internal ID21699665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:124183361..124183361hg38UCSC Ensembl
chrX:123317211..123317211hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38477
hg19477
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722843
Supporting Variants
Samples
Known Genes
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)nssv17252156
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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