A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726547



Internal ID21752868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:103607585..103607585hg38UCSC Ensembl
chrX:102862513..102862513hg19UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg38564
hg19564
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241516
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)nsv5726547
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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