A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237658



Internal ID22373932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:43906539..43930326hg38UCSC Ensembl
Outerchr22:44302419..44326206hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38959
hg19959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268215, nssv14268214, nssv14268213, nssv14268218, nssv14268217, nssv14268216, nssv14268212
SamplesHG00512, NA19238, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesPNPLA3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237658
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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