A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241777



Internal ID22375064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:41931503..41946472hg38UCSC Ensembl
Outerchr22:42327507..42342476hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381341
hg191341
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268197, nssv14268192, nssv14268196, nssv14268194, nssv14268193, nssv14268198, nssv14268195, nssv14268199
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesCENPM
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241777
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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