A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218536



Internal ID22363844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:43413611..43427130hg38UCSC Ensembl
Outerchr5:43413713..43427232hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg381054
hg191054
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275201
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218536
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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