A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222369



Internal ID22366467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:48266498..48297841hg38UCSC Ensembl
Outerchr4:48268515..48299858hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg381147
hg191147
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274217
SamplesHG00513
Known GenesTEC
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222369
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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