A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218379



Internal ID22363737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:90081865..90098202hg38UCSC Ensembl
Outerchr12:90475642..90491979hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3816338
hg1916338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254687, nssv14254691, nssv14254689, nssv14254688, nssv14254690
SamplesHG00512, NA19238, NA19239, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218379
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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