A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218009



Internal ID22363499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:38080665..38085324hg38UCSC Ensembl
Outerchr3:38122156..38126815hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg381763
hg191763
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271820, nssv14271822, nssv14271821
SamplesHG00512, NA19239, NA19240
Known GenesDLEC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218009
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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