A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221454



Internal ID22365838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:56618588..56634522hg38UCSC Ensembl
Outerchr4:57484754..57500688hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381581
hg191581
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274063, nssv14274062
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221454
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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