A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261784



Internal ID22231916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78971516..79039329hg38UCSC Ensembl
Outerchr18:76731516..76799329hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3867814
hg1967814
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210480
Supporting Variants
SamplesHG00733
Known GenesSALL3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261784
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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