A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720518



Internal ID21746839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:133183079..133183079hg38UCSC Ensembl
chr7:132867837..132867837hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38679
hg19679
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244963
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)nsv5720518
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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