A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521036



Internal ID22390448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:32132250..32132250hg38UCSC Ensembl
chr13:32706387..32706387hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14416248, nssv14444147
SamplesHG00733, HG00514
Known GenesFRY
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3521036
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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