A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5676155



Internal ID21702476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:152311710..152311710hg38UCSC Ensembl
chr3:152029499..152029499hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17210807, nssv17232083
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)nsv5676155
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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