A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716515



Internal ID21742836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:6641748..6641748hg38UCSC Ensembl
chr6:6641981..6641981hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg381082
hg191082
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247376
Samples
Known GenesLY86
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)nsv5716515
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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