A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220326



Internal ID22365052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:40641628..40648950hg38UCSC Ensembl
Outerchr4:40643645..40650967hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38539
hg19539
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273880, nssv14273879
SamplesHG00512, NA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220326
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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