A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227299



Internal ID22369835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:111696855..111756535hg38UCSC Ensembl
Outerchr8:112709084..112768764hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3859681
hg1959681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281617, nssv14281480
SamplesNA19238, NA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227299
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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