A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704169



Internal ID21730490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:21743685..21743685hg38UCSC Ensembl
chr18:19323646..19323646hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17225734
Samples
Known GenesMIB1
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)nsv5704169
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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