A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215478



Internal ID22361797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:33137692..33255543hg38UCSC Ensembl
Outerchr12:33290626..33408478hg19UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg38117852
hg19117853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254825, nssv14254826, nssv14254827, nssv14254824, nssv14254828
SamplesHG00731, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215478
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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