A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689334



Internal ID21715655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66920577..66920577hg38UCSC Ensembl
chr7:66385564..66385564hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17181097
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)nsv5689334
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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