A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729599



Internal ID21755920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:71329055..71329055hg38UCSC Ensembl
chr6:72038758..72038758hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251792, nssv17239838
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)nsv5729599
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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