A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712018



Internal ID21738339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:32018461..32018461hg38UCSC Ensembl
chr8:31875977..31875977hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17184224
Samples
Known GenesNRG1
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)nsv5712018
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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