A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5684125



Internal ID21710446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42265963..42265963hg38UCSC Ensembl
chr1:42731634..42731634hg19UCSC Ensembl
Cytoband1p34.2
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 Variantsnssv17207268
Samples
Known GenesFOXJ3
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)nsv5684125
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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