A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712669



Internal ID21738990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:23717158..23717158hg38UCSC Ensembl
chr15:23962305..23962305hg19UCSC Ensembl
Cytoband15q11.2
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 Variantsnssv17195977, nssv17230374
Samples
Known Genes
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)nsv5712669
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