A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5707421



Internal ID21733742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:3700909..3700909hg38UCSC Ensembl
chr10:3743101..3743101hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17186998, nssv17217598
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)nsv5707421
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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