A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214716



Internal ID22361288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:41738368..41759409hg38UCSC Ensembl
Outerchr22:42134372..42155413hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3821042
hg1921042
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269303, nssv14269302, nssv14269305, nssv14269304
SamplesNA19238, HG00731, HG00732, HG00513
Known GenesMEI1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214716
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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