A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720800



Internal ID21747121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:150813830..150813830hg38UCSC Ensembl
chr6:151134966..151134966hg19UCSC Ensembl
Cytoband6q25.1
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 Variantsnssv17243107
Samples
Known GenesPLEKHG1
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)nsv5720800
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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