A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693444



Internal ID21719765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74195891..74195891hg38UCSC Ensembl
chr7:73610221..73610221hg19UCSC Ensembl
Cytoband7q11.23
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 Variantsnssv17182007
Samples
Known GenesEIF4H
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)nsv5693444
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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