A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689678



Internal ID21715999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6052607..6052607hg38UCSC Ensembl
chr7:6092238..6092238hg19UCSC Ensembl
Cytoband7p22.1
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 Variantsnssv17219986, nssv17181301
Samples
Known GenesEIF2AK1
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)nsv5689678
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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