A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267985



Internal ID22304147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17521320..17537445hg38UCSC Ensembl
Outerchr22:18000349..18017134hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38805
hg19805
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243911
Supporting Variants
SamplesNA19240
Known GenesCECR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267985
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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