A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726156



Internal ID21752477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:15325223..15325223hg38UCSC Ensembl
chrX:15343345..15343345hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17215461
Samples
Known GenesPIGA
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)nsv5726156
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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