A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693572



Internal ID21719893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101018768..101018768hg38UCSC Ensembl
chr2:101635230..101635230hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17207624, nssv17207323
Samples
Known GenesRPL31, TBC1D8
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)nsv5693572
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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