A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213396



Internal ID22360360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:69409866..69411959hg38UCSC Ensembl
Outerchr17:67406007..67408100hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg382094
hg192094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260991
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213396
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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