A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245323



Internal ID22376118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45327524..45333454hg38UCSC Ensembl
Outerchr22:45723405..45729335hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381646
hg191646
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268238, nssv14268236, nssv14268233, nssv14268235, nssv14268234, nssv14268237
SamplesHG00512, NA19238, HG00731, HG00732, HG00513, HG00514
Known GenesFAM118A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245323
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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