A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729700



Internal ID21756021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:69199612..69199612hg38UCSC Ensembl
chr14:69666329..69666329hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg382342
hg192342
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234033
Samples
Known GenesEXD2
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)nsv5729700
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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