A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219303



Internal ID22364363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20335627..20364333hg38UCSC Ensembl
chr22:20323150..20718623hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3828707
hg19395474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5680n152
Supporting Variantsnssv14410096
SamplesNA19240
Known GenesLOC729444, PI4KAP1, RIMBP3, TMEM191B
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219303
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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