A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695387



Internal ID21721708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17931658..17931658hg38UCSC Ensembl
chr17:17834972..17834972hg19UCSC Ensembl
Cytoband17p11.2
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 Variantsnssv17197338
Samples
Known GenesTOM1L2
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)nsv5695387
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