A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714599



Internal ID21740920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:98622089..98622089hg38UCSC Ensembl
chr2:99238552..99238552hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg381471
hg191471
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250089, nssv17246836
Samples
Known GenesMGAT4A
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)nsv5714599
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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