A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523786



Internal ID22393214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:52866318..52866318hg38UCSC Ensembl
chr5:52162152..52162152hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14399782
SamplesNA19240
Known GenesITGA1
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)nsv3523786
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