A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715737



Internal ID21742058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:43968601..43968601hg38UCSC Ensembl
chr13:44542737..44542737hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38977
hg19977
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247016
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)nsv5715737
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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