A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524022



Internal ID22393451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:32031875..32031875hg38UCSC Ensembl
chr10:32320803..32320803hg19UCSC Ensembl
Cytoband10p11.22
Allele length
AssemblyAllele length
hg38364
hg19364
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14414535, nssv14440253
SamplesHG00733, HG00514
Known GenesKIF5B
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)nsv3524022
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