A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717894



Internal ID21744215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:35566745..35566745hg38UCSC Ensembl
chr13:36140882..36140882hg19UCSC Ensembl
Cytoband13q13.3
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 Variantsnssv17247888
Samples
Known GenesMIR548F5, NBEA
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)nsv5717894
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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