A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717554



Internal ID21743875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100595605..100595605hg38UCSC Ensembl
chr12:100989383..100989383hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38395
hg19395
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241732
Samples
Known GenesGAS2L3
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)nsv5717554
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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