A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216045



Internal ID22362172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57093601..57094750hg38UCSC Ensembl
chr12:57487384..57488533hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg381150
hg191150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14364208, nssv14364209, nssv14364213, nssv14364212, nssv14364211, nssv14364205, nssv14364210, nssv14364207, nssv14364206
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesNAB2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216045
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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