A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721013



Internal ID21747334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:47021353..47021353hg38UCSC Ensembl
chr6:46989089..46989089hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251202
Samples
Known GenesGPR110
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)nsv5721013
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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