A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250089



Internal ID21697598
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 StatusS
Merged Variantsnsv5714599
Supporting Variants
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)nssv17250089
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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