A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5682002



Internal ID21708323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:29749877..29749877hg38UCSC Ensembl
chr3:29791368..29791368hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17230379
Samples
Known GenesRBMS3
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)nsv5682002
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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