A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244180



Internal ID22375788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45049491..45084082hg38UCSC Ensembl
Outerchr22:45445372..45479963hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381042
hg191042
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268227, nssv14268230, nssv14268229, nssv14268226, nssv14268228, nssv14268225, nssv14268231, nssv14268232
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244180
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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