A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258321



Internal ID22277044
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218114
Supporting Variants
SamplesNA19239
Known GenesNRXN3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258321
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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