A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224519



Internal ID22367927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:79636532..79649336hg38UCSC Ensembl
Outerchr14:80102875..80115679hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3812805
hg1912805
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258907, nssv14258908
SamplesHG00731, HG00733
Known GenesNRXN3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224519
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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