A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213816



Internal ID22360639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:20335627..20364333hg38UCSC Ensembl
Outerchr22:20323150..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 Variantsnssv14269320, nssv14269321
SamplesNA19239, NA19240
Known GenesLOC729444, PI4KAP1, RIMBP3, TMEM191B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213816
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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