A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244017



Internal ID21691526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:63512816..63512816hg38UCSC Ensembl
chrX:62732696..62732696hg19UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728912
Supporting Variants
Samples
Known GenesLOC92249
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)nssv17244017
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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