A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249730



Internal ID22377358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17873372..17882208hg38UCSC Ensembl
Outerchr22:18356138..18364974hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg383026
hg193026
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269968, nssv14268484, nssv14269969, nssv14269967, nssv14269966, nssv14269965
SamplesNA19238, NA19239, HG00731, HG00733, HG00513, HG00514
Known GenesMICAL3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249730
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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