A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17232083



Internal ID21679592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:152311710..152311710hg38UCSC Ensembl
chr3:152029499..152029499hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5676155
Supporting Variants
Samples
Known GenesMBNL1
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)nssv17232083
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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