A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719269



Internal ID21745590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:71018144..71018144hg38UCSC Ensembl
chr4:71883861..71883861hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg382396
hg192396
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247940
Samples
Known GenesDCK
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)nsv5719269
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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