A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246859



Internal ID22376551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:37222717..37229459hg38UCSC Ensembl
Outerchr22:37618757..37625499hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38683
hg19683
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268609, nssv14268608, nssv14268607
SamplesNA19238, NA19239, HG00732
Known GenesRAC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246859
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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