A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222457



Internal ID22366530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177768386..177818593hg38UCSC Ensembl
Outerchr5:177195387..177245594hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38358
hg19358
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275944
SamplesHG00513
Known GenesFAM153A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222457
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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