A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724078



Internal ID21750399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110033277..110033277hg38UCSC Ensembl
chr13:110685624..110685624hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250295
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)nsv5724078
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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