A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730270



Internal ID21756591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:116233531..116233531hg38UCSC Ensembl
chr7:115873585..115873585hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250940
Samples
Known GenesTES
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)nsv5730270
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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