A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726112



Internal ID21752433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125262896..125262896hg38UCSC Ensembl
chr11:125132792..125132792hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38362
hg19362
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247849, nssv17250000
Samples
Known GenesPKNOX2
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)nsv5726112
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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