A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216899



Internal ID22362741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:46234680..46239629hg38UCSC Ensembl
Outerchr12:46628463..46633412hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg384950
hg194950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255259, nssv14255260
SamplesNA19239, NA19240
Known GenesSLC38A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216899
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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