A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692001



Internal ID21718322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:146540497..146540497hg38UCSC Ensembl
chr3:146258284..146258284hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17224499
Samples
Known GenesPLSCR1
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)nsv5692001
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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