A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3174479



Internal ID22332832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:27770663..27770731hg38UCSC Ensembl
chr22:28166651..28166719hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14432829, nssv14409777
SamplesNA19240, HG00514
Known GenesMN1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a Alu.Moasic mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3174479
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer