A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685962



Internal ID21712283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224323729..224323729hg38UCSC Ensembl
chr2:225188446..225188446hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17224865, nssv17209477
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)nsv5685962
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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