A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5688732



Internal ID21715053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:19723959..19723959hg38UCSC Ensembl
chr7:19763582..19763582hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17181354
Samples
Known GenesTMEM196
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)nsv5688732
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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