A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5678494



Internal ID21704815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:83802433..83802433hg38UCSC Ensembl
chr1:84268116..84268116hg19UCSC Ensembl
Cytoband1p31.1
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 Variantsnssv17173634, nssv17205199
Samples
Known GenesMIR548AP
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)nsv5678494
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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