A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243911



Internal ID22375708
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267984, nssv14267983, nssv14267981, nssv14267985, nssv14267982
SamplesNA19238, NA19239, HG00731, HG00732, NA19240
Known GenesCECR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243911
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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