A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258908



Internal ID22228908
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224519
Supporting Variants
SamplesHG00733
Known GenesNRXN3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258908
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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