A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724280



Internal ID21750601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:152153449..152153449hg38UCSC Ensembl
chr6:152474584..152474584hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg383033
hg193033
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245543, nssv17244340
Samples
Known GenesSYNE1
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)nsv5724280
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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