A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691243



Internal ID21717564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:150719595..150719595hg38UCSC Ensembl
chr3:150437382..150437382hg19UCSC Ensembl
Cytoband3q25.1
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 Variantsnssv17210786, nssv17232524
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)nsv5691243
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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