A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718330



Internal ID21744651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:116843601..116843601hg38UCSC Ensembl
chr7:116483655..116483655hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg381007
hg191007
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242943, nssv17251408
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)nsv5718330
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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