A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220828



Internal ID22365415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:131964817..131981517hg38UCSC Ensembl
Outerchr3:131683661..131700361hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381174
hg191174
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272585, nssv14272586
SamplesHG00731, HG00514
Known GenesCPNE4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220828
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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