A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521571



Internal ID22390987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:87689493..87689493hg38UCSC Ensembl
chr10:89449250..89449250hg19UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14442693
SamplesHG00733
Known GenesPAPSS2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3521571
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer