A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17251789



Internal ID21699298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:86005850..86005850hg38UCSC Ensembl
chr12:86399628..86399628hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg381246
hg191246
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717206
Supporting Variants
Samples
Known GenesMGAT4C
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)nssv17251789
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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