A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725076



Internal ID21751397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:13226227..13226227hg38UCSC Ensembl
chrX:13244346..13244346hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg381056
hg191056
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249303, nssv17223456
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)nsv5725076
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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