A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217008



Internal ID22362813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:126295149..126332042hg38UCSC Ensembl
Outerchr12:126779695..126816588hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3836894
hg1936894
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254805, nssv14254807, nssv14254806
SamplesNA19239, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217008
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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