A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211256



Internal ID22358872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7081263..7094076hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3812814
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255235, nssv14255232, nssv14255234, nssv14255233
SamplesHG00512, NA19239, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211256
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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