A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704738



Internal ID21731059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76766067..76766067hg38UCSC Ensembl
chr14:77232410..77232410hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17196911
Samples
Known GenesVASH1
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)nsv5704738
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