A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706478



Internal ID21732799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:31025553..31025553hg38UCSC Ensembl
chr8:30883069..30883069hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17184214
Samples
Known GenesPURG
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)nsv5706478
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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