A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248375



Internal ID22376966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17873802..17878086hg38UCSC Ensembl
Outerchr22:18356568..18360852hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381913
hg191913
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268487, nssv14268488, nssv14268490, nssv14268489
SamplesHG00512, NA19238, NA19239, HG00732
Known GenesMICAL3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248375
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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