A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246310



Internal ID21693819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:129588504..129588504hg38UCSC Ensembl
chrX:128722481..128722481hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716174
Supporting Variants
Samples
Known GenesOCRL
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)nssv17246310
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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