A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715955



Internal ID21742276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:151507641..151507641hg38UCSC Ensembl
chr4:152428793..152428793hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg386008
hg196008
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250366, nssv17249268
Samples
Known GenesFAM160A1
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)nsv5715955
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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