A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717308



Internal ID21743629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:27176274..27176274hg38UCSC Ensembl
chr9:27176272..27176272hg19UCSC Ensembl
Cytoband9p21.2
Allele length
AssemblyAllele length
hg38921
hg19921
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241013
Samples
Known GenesTEK
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)nsv5717308
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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