A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724214



Internal ID21750535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100925932..100925932hg38UCSC Ensembl
chr3:100644776..100644776hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg386010
hg196010
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236645
Samples
Known GenesABI3BP
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)nsv5724214
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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