A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234899



Internal ID22373151
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269147, nssv14269151, nssv14269150, nssv14269149, nssv14269148
SamplesHG00512, HG00731, HG00732, HG00733, HG00514
Known GenesPPP6R2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234899
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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