A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268193



Internal ID22135750
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241777
Supporting Variants
SamplesHG00513
Known GenesCENPM
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268193
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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