A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216038



Internal ID22362166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:77686731..77726251hg38UCSC Ensembl
Outerchr12:78080511..78120031hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3839521
hg1939521
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254837
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216038
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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