A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222906



Internal ID22366833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:16959885..16987300hg38UCSC Ensembl
Outerchr3:17001377..17028792hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38775
hg19775
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271797, nssv14271798, nssv14271796, nssv14271800, nssv14271799
SamplesHG00512, NA19239, HG00731, HG00732, HG00513
Known GenesPLCL2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222906
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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