A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699322



Internal ID21725643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:17782391..17782391hg38UCSC Ensembl
chr10:17824390..17824390hg19UCSC Ensembl
Cytoband10p12.33
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 Variantsnssv17187875
Samples
Known GenesTMEM236
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)nsv5699322
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