A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680008



Internal ID21706329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:90585616..90585616hg38UCSC Ensembl
chr6:91295335..91295335hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17222125, nssv17180032
Samples
Known GenesMAP3K7
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)nsv5680008
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer