A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262848



Internal ID22253751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:62573751..62586932hg38UCSC Ensembl
Outerchr18:60240984..60254165hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3813182
hg1913182
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213981
Supporting Variants
SamplesNA19238
Known GenesZCCHC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262848
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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