A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217860



Internal ID22363392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:138570899..138575971hg38UCSC Ensembl
Outerchr5:137906588..137911660hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg382578
hg192578
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275255, nssv14275256
SamplesNA19239, NA19240
Known GenesHSPA9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217860
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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