A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231275



Internal ID22372187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:35462477..35471925hg38UCSC Ensembl
Outerchr22:35858470..35867918hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38819
hg19819
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268584, nssv14268589, nssv14268586, nssv14268585, nssv14268588, nssv14268587
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231275
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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