A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687810



Internal ID21714131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169590701..169590701hg38UCSC Ensembl
chr1:169559939..169559939hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17182962
Samples
Known GenesSELP
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)nsv5687810
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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