A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218114



Internal ID22363570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:79513242..79519050hg38UCSC Ensembl
Outerchr14:79979585..79985393hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg385809
hg195809
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258322, nssv14258321
SamplesNA19239, NA19240
Known GenesNRXN3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218114
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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