A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261729



Internal ID22133636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:59783546..59795811hg38UCSC Ensembl
Outerchr18:57450778..57463043hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg3812266
hg1912266
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220775
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261729
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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