A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730963



Internal ID21757284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:106016511..106016511hg38UCSC Ensembl
chr6:106464386..106464386hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38563
hg19563
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233797, nssv17234147
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)nsv5730963
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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