A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14377422



Internal ID22327813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60525910..60525910hg38UCSC Ensembl
chr11:60293383..60293383hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521933
Supporting Variants
SamplesNA19240
Known GenesMS4A13
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)nssv14377422
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