A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522974



Internal ID22392398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179748397..179748397hg38UCSC Ensembl
chr5:179175398..179175398hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14398771
SamplesNA19240
Known GenesMAML1
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)nsv3522974
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