A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262026



Internal ID22145614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:5206385..5216810hg38UCSC Ensembl
Outerchr18:5206384..5216809hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3810426
hg1910426
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216553
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262026
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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