A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268484



Internal ID22265213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17873372..17882208hg38UCSC Ensembl
Outerchr22:18356138..18364974hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38915
hg19915
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249730
Supporting Variants
SamplesNA19238
Known GenesMICAL3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268484
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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