A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692689



Internal ID21719010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:37616038..37616038hg38UCSC Ensembl
chr4:37617660..37617660hg19UCSC Ensembl
Cytoband4p14
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 Variantsnssv17221178, nssv17208605
Samples
Known GenesRELL1
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)nsv5692689
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