A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220766



Internal ID22365371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:13216468..13237897hg38UCSC Ensembl
Outerchr4:13218092..13239521hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg381849
hg191849
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273219, nssv14273221, nssv14273220
SamplesNA19239, HG00731, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220766
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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