A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686936



Internal ID21713257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8869244..8869244hg38UCSC Ensembl
chr1:8929303..8929303hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17203607, nssv17213976
Samples
Known GenesENO1
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)nsv5686936
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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