A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524361



Internal ID22393794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112074313..112074313hg38UCSC Ensembl
chr6:112395516..112395516hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14400496
SamplesNA19240
Known GenesTUBE1
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)nsv3524361
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