A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727592



Internal ID21753913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:68020517..68020517hg38UCSC Ensembl
chr7:67485504..67485504hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg382987
hg192987
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243762
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)nsv5727592
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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