A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690924



Internal ID21717245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:140629990..140629990hg38UCSC Ensembl
chr4:141551144..141551144hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17174653
Samples
Known GenesTBC1D9
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5690924
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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