A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724601



Internal ID21750922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:121961167..121961167hg38UCSC Ensembl
chr6:122282313..122282313hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237053, nssv17247866
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)nsv5724601
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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