A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5731038



Internal ID21757359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95715034..95715034hg38UCSC Ensembl
chr12:96108812..96108812hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236911, nssv17242330
Samples
Known GenesNTN4
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)nsv5731038
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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