A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5678338



Internal ID21704659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:78423249..78423249hg38UCSC Ensembl
chr7:78052566..78052566hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17182502
Samples
Known GenesMAGI2
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)nsv5678338
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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