A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726467



Internal ID21752788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39492489..39492489hg38UCSC Ensembl
chr7:39532088..39532088hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237482, nssv17235486
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)nsv5726467
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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