A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14409787



Internal ID22323344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31591642..31593028hg38UCSC Ensembl
chr22:31987628..31989014hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg381387
hg191387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3293543
Supporting Variants
SamplesNA19240
Known GenesSFI1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14409787
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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