A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218451



Internal ID22363785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:37184805..37350760hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38165956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1797n152
Supporting Variantsnssv14255573, nssv14255572
SamplesNA19238, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218451
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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