A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727397



Internal ID21753718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:18387632..18387632hg38UCSC Ensembl
chr4:18389255..18389255hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg386015
hg196015
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242784, nssv17242144
Samples
Known Genes
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)nsv5727397
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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