A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705984



Internal ID21732305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:126770794..126770794hg38UCSC Ensembl
chr8:127783039..127783039hg19UCSC Ensembl
Cytoband8q24.21
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 Variantsnssv17185139, nssv17216497
Samples
Known Genes
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)nsv5705984
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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