A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727519



Internal ID21753840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55956543..55956543hg38UCSC Ensembl
chr4:56822709..56822709hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381418
hg191418
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250599, nssv17243063
Samples
Known GenesCEP135
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)nsv5727519
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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