A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722023



Internal ID21748344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:36698752..36698752hg38UCSC Ensembl
chrX:36716825..36716825hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17229191, nssv17250458
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)nsv5722023
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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