A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217301



Internal ID22363005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:36189669..36460604hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38270936
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3538n152
Supporting Variantsnssv14260946, nssv14260947
SamplesNA19238, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217301
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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