A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217993



Internal ID22363487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:155874439..155914460hg38UCSC Ensembl
Outerchr5:155301449..155341470hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg381587
hg191587
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275943, nssv14275942
SamplesHG00731, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217993
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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