A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728238



Internal ID21754559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:71408004..71408004hg38UCSC Ensembl
chr14:71874721..71874721hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238736, nssv17243633
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)nsv5728238
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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