A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681300



Internal ID21707621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225519125..225519125hg38UCSC Ensembl
chr1:225706827..225706827hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17191856, nssv17204840
Samples
Known GenesENAH
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)nsv5681300
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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