A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689011



Internal ID21715332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:60917845..60917845hg38UCSC Ensembl
chr1:61383517..61383517hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17204597
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)nsv5689011
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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