A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230420



Internal ID22371928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38102438..38115032hg38UCSC Ensembl
Outerchr22:38498445..38511039hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg382489
hg192489
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268611, nssv14268610, nssv14268619, nssv14268618, nssv14268617, nssv14268614, nssv14268616, nssv14268612, nssv14268615
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesBAIAP2L2, PLA2G6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230420
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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