A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261693



Internal ID22119688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:69293982..69329977hg38UCSC Ensembl
Outerchr18:66961218..66997213hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3835996
hg1935996
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228215
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261693
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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