A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679021



Internal ID21705342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23524091..23524091hg38UCSC Ensembl
chr1:23850583..23850583hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17205705, nssv17185931
Samples
Known GenesE2F2
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)nsv5679021
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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