A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269151



Internal ID22225197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50396276..50401440hg38UCSC Ensembl
Outerchr22:50834705..50839869hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38934
hg19934
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234899
Supporting Variants
SamplesHG00733
Known GenesPPP6R2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269151
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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