A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718722



Internal ID21745043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16136543..16136543hg38UCSC Ensembl
chr19:16247353..16247353hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246917
Samples
Known GenesHSH2D
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)nsv5718722
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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