A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261691



Internal ID22119684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:50941769..50945051hg38UCSC Ensembl
Outerchr18:48468139..48471421hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg383283
hg193283
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217237
Supporting Variants
SamplesHG00512
Known GenesME2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261691
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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